Canonical Allele Identifier: CA4661732

Gene: HR

Linked Data

• ClinVar Variation Id: 362474
• ClinVar RCV Id: RCV000260156 ; RCV000334027
• dbSNP Id: rs779312247
• ExAC: 8:21973246 C / T
• gnomAD v2: 8-21973246-C-T
• gnomAD v4: 8-22115733-C-T
• MyVariant Identifiers: chr8:g.21973246C>T (hg19) ; chr8:g.22115733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22115733C>T , CM000670.2:g.22115733C>T	GRCh38
NC_000008.10:g.21973246C>T , CM000670.1:g.21973246C>T	GRCh37
NC_000008.9:g.22029191C>T	NCBI36
NG_008166.1:g.19785G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3537G>A MANE Select	ENSP00000370826.4:p.Lys1179=
ENST00000680789.1:c.3537G>A	ENSP00000505181.1:p.Lys1179=
ENST00000312841.9:c.3372G>A	ENSP00000326765.8:p.Lys1124=
ENST00000381418.8:c.3537G>A	ENSP00000370826.4:p.Lys1179=
ENST00000522016.1:n.1730G>A
NM_005144.4:c.3537G>A	NP_005135.2:p.Lys1179=
NM_018411.4:c.3372G>A	NP_060881.2:p.Lys1124=
XM_005273569.1:c.3540G>A	XP_005273626.1:p.Lys1180=
XM_006716367.1:c.3375G>A	XP_006716430.1:p.Lys1125=
XM_005273569.2:c.3540G>A	XP_005273626.1:p.Lys1180=
XM_006716367.2:c.3375G>A	XP_006716430.1:p.Lys1125=
NM_005144.5:c.3537G>A MANE Select	NP_005135.2:p.Lys1179=