Canonical Allele Identifier: CA1030172045

Gene: EPAS1

Linked Data

• dbSNP Id: rs1683107656
• gnomAD v3: 2-46306296-G-C
• gnomAD v4: 2-46306296-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46306296G>C , CM000664.2:g.46306296G>C	GRCh38
NC_000002.11:g.46533435G>C , CM000664.1:g.46533435G>C	GRCh37
NC_000002.10:g.46386939G>C	NCBI36
NG_016000.1:g.13895G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.26+8359G>C MANE Select	ENSP00000263734.3:n.26+8359G>C
ENST00000263734.4:c.26+8359G>C	ENSP00000263734.3:n.26+8359G>C
ENST00000449347.5:c.26+8359G>C	ENSP00000406137.1:n.26+8359G>C
ENST00000460015.1:n.432+12198G>C
ENST00000467888.5:n.174+8359G>C
NM_001430.4:c.26+8359G>C	NP_001421.2:n.26+8359G>C
XR_940055.1:n.2501+7797C>G
NM_001430.5:c.26+8359G>C MANE Select	NP_001421.2:n.26+8359G>C