Canonical Allele Identifier: CA769367697
Gene: EPAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1447804519
gnomAD v3: 2-46350381-C-G
gnomAD v4: 2-46350381-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350381C>G , CM000664.2:g.46350381C>G GRCh38
NC_000002.11:g.46577520C>G , CM000664.1:g.46577520C>G GRCh37
NC_000002.10:g.46431024C>G NCBI36
NG_016000.1:g.57980C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263734.5:c.217+3318C>G MANE Select ENSP00000263734.3:n.217+3318C>G
ENST00000263734.4:c.217+3318C>G ENSP00000263734.3:n.217+3318C>G
ENST00000449347.5:c.217+3318C>G ENSP00000406137.1:n.217+3318C>G
ENST00000475822.1:n.408+3318C>G
NM_001430.4:c.217+3318C>G NP_001421.2:n.217+3318C>G
XM_011532698.1:c.256+3318C>G XP_011531000.1:n.256+3318C>G
XM_011532698.2:c.256+3318C>G XP_011531000.1:n.256+3318C>G
NM_001430.5:c.217+3318C>G MANE Select NP_001421.2:n.217+3318C>G