Canonical Allele Identifier: CA1030160881

Gene: EPAS1

Linked Data

• dbSNP Id: rs1683653072
• gnomAD v3: 2-46330500-C-T
• gnomAD v4: 2-46330500-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46330500C>T , CM000664.2:g.46330500C>T	GRCh38
NC_000002.11:g.46557639C>T , CM000664.1:g.46557639C>T	GRCh37
NC_000002.10:g.46411143C>T	NCBI36
NG_016000.1:g.38099C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.27-16373C>T MANE Select	ENSP00000263734.3:n.27-16373C>T
ENST00000263734.4:c.27-16373C>T	ENSP00000263734.3:n.27-16373C>T
ENST00000449347.5:c.27-16373C>T	ENSP00000406137.1:n.27-16373C>T
ENST00000460015.1:n.433-16373C>T
ENST00000467888.5:n.175-16373C>T
NM_001430.4:c.27-16373C>T	NP_001421.2:n.27-16373C>T
XM_011532698.1:c.65+4624C>T	XP_011531000.1:n.65+4624C>T
XR_940055.1:n.2355+5284G>A
XM_011532698.2:c.65+4624C>T	XP_011531000.1:n.65+4624C>T
NM_001430.5:c.27-16373C>T MANE Select	NP_001421.2:n.27-16373C>T