Human (GRCh38.p14)
Description

otoferlin [Source:HGNC Symbol;Acc:HGNC:8515]

Gene Synonyms

DFNB6, DFNB9, FER1L2

Location

Chromosome 2: 26,457,203-26,558,756 reverse strand.

GRCh38:CM000664.2

About this gene

This gene has 7 transcripts (splice variants), 277 orthologues, 4 paralogues and is associated with 2 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000272371.7OTOF-20172141997aaENSP00000272371.2
 
Protein coding
CCDS1725Q9HC10-1 NM_194248.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS ALT1TSL:1
ENST00000403946.7OTOF-20569371997aaENSP00000385255.3
 
Protein coding
CCDS74497Q9HC10-5 -GENCODE basicAPPRIS P4TSL:5
ENST00000402415.8OTOF-20451081250aaENSP00000383906.4
 
Protein coding
A0A2U3TZT7 -GENCODE basicTSL:1
ENST00000338581.10OTOF-20249541230aaENSP00000345137.6
 
Protein coding
CCDS1726Q9HC10-4 -GENCODE basicTSL:1
ENST00000339598.8OTOF-20348381230aaENSP00000344521.3
 
Protein coding
CCDS1724Q9HC10-2 NM_194323.3MANE Plus ClinicalGENCODE basicTSL:1
ENST00000426958.1OTOF-206557141aaENSP00000389917.1
 
Protein coding
H7BZJ5 -TSL:3CDS 5' incomplete
ENST00000464574.1OTOF-207918No protein-
 
Retained intron
--TSL:5