Canonical Allele Identifier: CA46534671
Gene: EPAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1044702080
gnomAD v2: 2-46577565-G-A
gnomAD v3: 2-46350426-G-A
gnomAD v4: 2-46350426-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350426G>A , CM000664.2:g.46350426G>A GRCh38
NC_000002.11:g.46577565G>A , CM000664.1:g.46577565G>A GRCh37
NC_000002.10:g.46431069G>A NCBI36
NG_016000.1:g.58025G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263734.5:c.217+3363G>A MANE Select ENSP00000263734.3:n.217+3363G>A
ENST00000263734.4:c.217+3363G>A ENSP00000263734.3:n.217+3363G>A
ENST00000449347.5:c.217+3363G>A ENSP00000406137.1:n.217+3363G>A
ENST00000475822.1:n.408+3363G>A
NM_001430.4:c.217+3363G>A NP_001421.2:n.217+3363G>A
XM_011532698.1:c.256+3363G>A XP_011531000.1:n.256+3363G>A
XM_011532698.2:c.256+3363G>A XP_011531000.1:n.256+3363G>A
NM_001430.5:c.217+3363G>A MANE Select NP_001421.2:n.217+3363G>A