Human (GRCh38.p14)
Description

egl-9 family hypoxia inducible factor 1 [Source:HGNC Symbol;Acc:HGNC:1232]

Gene Synonyms

C1ORF12, HIFPH2, PHD2, SM-20, ZMYND6

Location

Chromosome 1: 231,363,751-231,422,287 reverse strand.

GRCh38:CM000663.2

About this gene

This gene has 7 transcripts (splice variants), 227 orthologues, 2 paralogues and is associated with 3 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000366641.4EGLN1-2014335426aaENSP00000355601.3
 
Protein coding
CCDS1595Q9GZT9-1 NM_022051.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000667629.1EGLN1-2063108113aaENSP00000499629.1
 
Protein coding
A0A590UJZ0 -CDS 5' incomplete
ENST00000658954.1EGLN1-2041090175aaENSP00000499299.1
 
Protein coding
A0A590UJ78 -CDS 5' incomplete
ENST00000670301.1EGLN1-20778381aaENSP00000499368.1
 
Protein coding
A0A590UJD6 -CDS 5' incomplete
ENST00000654803.1EGLN1-2031525159aaENSP00000499591.1
 
Nonsense mediated decay
A0A590UJT7 -CDS 5' incomplete
ENST00000476717.2EGLN1-202614No protein-
 
Protein coding CDS not defined
--TSL:1
ENST00000663780.1EGLN1-205570No protein-
 
Retained intron
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