Canonical Allele Identifier: CA1030171987
Gene: EPAS1 HGNC NCBI

Linked Data

gnomAD v3: 2-46306138-A-T
gnomAD v4: 2-46306138-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46306138A>T , CM000664.2:g.46306138A>T GRCh38
NC_000002.11:g.46533277A>T , CM000664.1:g.46533277A>T GRCh37
NC_000002.10:g.46386781A>T NCBI36
NG_016000.1:g.13737A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.26+8201A>T MANE Select ENSP00000263734.3:n.26+8201A>T
ENST00000263734.4:c.26+8201A>T ENSP00000263734.3:n.26+8201A>T
ENST00000449347.5:c.26+8201A>T ENSP00000406137.1:n.26+8201A>T
ENST00000460015.1:n.432+12040A>T
ENST00000467888.5:n.174+8201A>T
NM_001430.4:c.26+8201A>T NP_001421.2:n.26+8201A>T
XR_940055.1:n.2501+7955T>A
NM_001430.5:c.26+8201A>T MANE Select NP_001421.2:n.26+8201A>T
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