Canonical Allele Identifier: CA769367842
Gene: EPAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1157830351
gnomAD v3: 2-46350593-G-T
gnomAD v4: 2-46350593-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350593G>T , CM000664.2:g.46350593G>T GRCh38
NC_000002.11:g.46577732G>T , CM000664.1:g.46577732G>T GRCh37
NC_000002.10:g.46431236G>T NCBI36
NG_016000.1:g.58192G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263734.5:c.217+3530G>T MANE Select ENSP00000263734.3:n.217+3530G>T
ENST00000263734.4:c.217+3530G>T ENSP00000263734.3:n.217+3530G>T
ENST00000449347.5:c.217+3530G>T ENSP00000406137.1:n.217+3530G>T
ENST00000475822.1:n.408+3530G>T
NM_001430.4:c.217+3530G>T NP_001421.2:n.217+3530G>T
XM_011532698.1:c.256+3530G>T XP_011531000.1:n.256+3530G>T
XM_011532698.2:c.256+3530G>T XP_011531000.1:n.256+3530G>T
NM_001430.5:c.217+3530G>T MANE Select NP_001421.2:n.217+3530G>T