Canonical Allele Identifier: CA1030176515
Gene: EPAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1684124811
gnomAD v3: 2-46350443-T-C
gnomAD v4: 2-46350443-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350443T>C , CM000664.2:g.46350443T>C GRCh38
NC_000002.11:g.46577582T>C , CM000664.1:g.46577582T>C GRCh37
NC_000002.10:g.46431086T>C NCBI36
NG_016000.1:g.58042T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263734.5:c.217+3380T>C MANE Select ENSP00000263734.3:n.217+3380T>C
ENST00000263734.4:c.217+3380T>C ENSP00000263734.3:n.217+3380T>C
ENST00000449347.5:c.217+3380T>C ENSP00000406137.1:n.217+3380T>C
ENST00000475822.1:n.408+3380T>C
NM_001430.4:c.217+3380T>C NP_001421.2:n.217+3380T>C
XM_011532698.1:c.256+3380T>C XP_011531000.1:n.256+3380T>C
XM_011532698.2:c.256+3380T>C XP_011531000.1:n.256+3380T>C
NM_001430.5:c.217+3380T>C MANE Select NP_001421.2:n.217+3380T>C