Canonical Allele Identifier: CA46534624
Gene: EPAS1 HGNC NCBI

Linked Data

dbSNP Id: rs965700619
gnomAD v2: 2-46577499-G-C
gnomAD v3: 2-46350360-G-C
gnomAD v4: 2-46350360-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350360G>C , CM000664.2:g.46350360G>C GRCh38
NC_000002.11:g.46577499G>C , CM000664.1:g.46577499G>C GRCh37
NC_000002.10:g.46431003G>C NCBI36
NG_016000.1:g.57959G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263734.5:c.217+3297G>C MANE Select ENSP00000263734.3:n.217+3297G>C
ENST00000263734.4:c.217+3297G>C ENSP00000263734.3:n.217+3297G>C
ENST00000449347.5:c.217+3297G>C ENSP00000406137.1:n.217+3297G>C
ENST00000475822.1:n.408+3297G>C
NM_001430.4:c.217+3297G>C NP_001421.2:n.217+3297G>C
XM_011532698.1:c.256+3297G>C XP_011531000.1:n.256+3297G>C
XM_011532698.2:c.256+3297G>C XP_011531000.1:n.256+3297G>C
NM_001430.5:c.217+3297G>C MANE Select NP_001421.2:n.217+3297G>C