Canonical Allele Identifier: CA4661765

Gene: HR

Linked Data

• dbSNP Id: rs771805970
• ExAC: 8:21973817 G / A
• gnomAD v2: 8-21973817-G-A
• gnomAD v4: 8-22116304-G-A
• MyVariant Identifiers: chr8:g.21973817G>A (hg19) ; chr8:g.22116304G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116304G>A , CM000670.2:g.22116304G>A	GRCh38
NC_000008.10:g.21973817G>A , CM000670.1:g.21973817G>A	GRCh37
NC_000008.9:g.22029762G>A	NCBI36
NG_008166.1:g.19214C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3503C>T MANE Select	ENSP00000370826.4:p.Ala1168Val
ENST00000680789.1:c.3503C>T	ENSP00000505181.1:p.Ala1168Val
ENST00000312841.9:c.3338C>T	ENSP00000326765.8:p.Ala1113Val
ENST00000381418.8:c.3503C>T	ENSP00000370826.4:p.Ala1168Val
ENST00000522016.1:n.1696C>T
NM_005144.4:c.3503C>T	NP_005135.2:p.Ala1168Val
NM_018411.4:c.3338C>T	NP_060881.2:p.Ala1113Val
XM_005273569.1:c.3506C>T	XP_005273626.1:p.Ala1169Val
XM_006716367.1:c.3341C>T	XP_006716430.1:p.Ala1114Val
XM_005273569.2:c.3506C>T	XP_005273626.1:p.Ala1169Val
XM_006716367.2:c.3341C>T	XP_006716430.1:p.Ala1114Val
NM_005144.5:c.3503C>T MANE Select	NP_005135.2:p.Ala1168Val