Human (GRCh38.p14)
Description

EF-hand domain containing 1 [Source:HGNC Symbol;Acc:HGNC:16406]

Gene Synonyms

EJM, EJM1, FLJ10466, POC9, RIB72

Location

Chromosome 6: 52,362,123-52,529,886 forward strand.

GRCh38:CM000668.2

About this gene

This gene has 39 transcripts (splice variants), 200 orthologues, 2 paralogues and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000371068.11EFHC1-2016849640aaENSP00000360107.4
 
Protein coding
CCDS4942Q5JVL4-1 NM_018100.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000538167.2EFHC1-2055308621aaENSP00000444521.1
 
Protein coding
CCDS55021Q5JVL4-3 -GENCODE basicTSL:5
ENST00000637353.1EFHC1-2333829641aaENSP00000490441.1
 
Protein coding
A0A1B0GVB0 -GENCODE basicTSL:5
ENST00000636107.1EFHC1-2143530582aaENSP00000489680.1
 
Protein coding
A0A1B0GTF7 -GENCODE basicTSL:5
ENST00000635984.1EFHC1-2123293474aaENSP00000489921.1
 
Protein coding
A0A1B0GU13 -GENCODE basicTSL:5
ENST00000636343.1EFHC1-2182965518aaENSP00000490193.1
 
Protein coding
A0A1B0GUP6 -TSL:5CDS 5' incomplete
ENST00000635996.1EFHC1-2132548632aaENSP00000490256.1
 
Protein coding
A0A1B0GUV2 -GENCODE basicTSL:5
ENST00000636489.1EFHC1-2212421621aaENSP00000489998.1
 
Protein coding
CCDS55021Q5JVL4-3 -GENCODE basicTSL:5
ENST00000636702.1EFHC1-2242197630aaENSP00000489623.1
 
Protein coding
A0A1B0GTB1 -GENCODE basicTSL:5
ENST00000637089.1EFHC1-2272133631aaENSP00000489854.1
 
Protein coding
A0A1B0GTV6 -GENCODE basicTSL:5
ENST00000636954.1EFHC1-2262129621aaENSP00000489966.1
 
Protein coding
CCDS55021Q5JVL4-3 -GENCODE basicTSL:2
ENST00000637263.1EFHC1-2302089552aaENSP00000489700.1
 
Protein coding
A0A1B0GTH2 -GENCODE basicTSL:5
ENST00000635760.1EFHC1-2062030532aaENSP00000489765.1
 
Protein coding
A0A1B0GTM7 -GENCODE basicTSL:5
ENST00000636379.1EFHC1-2191829544aaENSP00000490622.1
 
Protein coding
A0A1B0GVR3 -GENCODE basicTSL:5
ENST00000637315.1EFHC1-231552148aaENSP00000489708.1
 
Protein coding
A0A1B0GTH7 -TSL:3CDS 3' incomplete
ENST00000636566.1EFHC1-22255276aaENSP00000490602.1
 
Protein coding
A0A1B0GVP6 -TSL:4CDS 3' incomplete
ENST00000638075.1EFHC1-23854012aaENSP00000490711.1
 
Protein coding
A0A1B0GVZ5 -TSL:4CDS 3' incomplete
ENST00000480623.6EFHC1-2022549559aaENSP00000434498.2
 
Nonsense mediated decay
A0A1C7CYY1 -TSL:5
ENST00000635812.1EFHC1-2072539243aaENSP00000490859.1
 
Nonsense mediated decay
A0A1B0GWB3 -TSL:5
ENST00000635866.1EFHC1-209230197aaENSP00000489866.1
 
Nonsense mediated decay
A0A1B0GTW5 -TSL:5
ENST00000637602.1EFHC1-234202070aaENSP00000490074.1
 
Nonsense mediated decay
A0A1B0GUE4 -TSL:2
ENST00000637200.1EFHC1-229189697aaENSP00000490567.1
 
Nonsense mediated decay
A0A1B0GTW5 -TSL:5
ENST00000636398.1EFHC1-2201703132aaENSP00000489654.1
 
Nonsense mediated decay
A0A1B0GTD7 -TSL:5CDS 5' incomplete
ENST00000635963.1EFHC1-211507112aaENSP00000489852.1
 
Nonsense mediated decay
A0A1B0GTV4 -TSL:3
ENST00000637874.1EFHC1-23649032aaENSP00000490348.1
 
Nonsense mediated decay
A0A1B0GV27 -TSL:3CDS 5' incomplete
ENST00000637849.1EFHC1-2352746No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000637892.1EFHC1-2372635No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000636311.1EFHC1-2171897No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000636253.1EFHC1-216939No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000636713.1EFHC1-225714No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000638140.1EFHC1-239557No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000491749.2EFHC1-204496No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000635843.1EFHC1-208452No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000481466.2EFHC1-203387No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000636169.1EFHC1-2154308No protein-
 
Retained intron
--TSL:NA
ENST00000637340.1EFHC1-2324004No protein-
 
Retained intron
--TSL:1
ENST00000635911.1EFHC1-2103509No protein-
 
Retained intron
--TSL:5
ENST00000637121.1EFHC1-2282786No protein-
 
Retained intron
--TSL:3
ENST00000636616.1EFHC1-2231636No protein-
 
Retained intron
--TSL:5