Canonical Allele Identifier: CA1644825
Gene: EPAS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 795081
dbSNP Id: rs774395818
gnomAD v2: 2-46602890-C-T
gnomAD v3: 2-46375751-C-T
gnomAD v4: 2-46375751-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46375751C>T , CM000664.2:g.46375751C>T GRCh38
NC_000002.11:g.46602890C>T , CM000664.1:g.46602890C>T GRCh37
NC_000002.10:g.46456394C>T NCBI36
NG_016000.1:g.83350C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.948C>T MANE Select ENSP00000263734.3:p.Tyr316=
ENST00000263734.4:c.948C>T ENSP00000263734.3:p.Tyr316=
ENST00000483692.1:n.116C>T
NM_001430.4:c.948C>T NP_001421.2:p.Tyr316=
XM_011532698.1:c.987C>T XP_011531000.1:p.Tyr329=
XM_011532698.2:c.987C>T XP_011531000.1:p.Tyr329=
NM_001430.5:c.948C>T MANE Select NP_001421.2:p.Tyr316=