Canonical Allele Identifier: CA10625126

Gene: HR

Linked Data

• ClinVar Variation Id: 362457
• ClinVar RCV Id: RCV000282467 ; RCV000337457
• dbSNP Id: rs76436208
• gnomAD v2: 8-21972282-A-G
• gnomAD v3: 8-22114769-A-G
• gnomAD v4: 8-22114769-A-G
• MyVariant Identifiers: chr8:g.21972282A>G (hg19) ; chr8:g.22114769A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22114769A>G , CM000670.2:g.22114769A>G	GRCh38
NC_000008.10:g.21972282A>G , CM000670.1:g.21972282A>G	GRCh37
NC_000008.9:g.22028227A>G	NCBI36
NG_008166.1:g.20749T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.*931T>C MANE Select	ENSP00000370826.4:n.*931T>C
ENST00000680789.1:c.*931T>C	ENSP00000505181.1:n.*931T>C
ENST00000312841.9:c.*931T>C	ENSP00000326765.8:n.*931T>C
ENST00000381418.8:c.*931T>C	ENSP00000370826.4:n.*931T>C
NM_005144.4:c.*931T>C	NP_005135.2:n.*931T>C
NM_018411.4:c.*931T>C	NP_060881.2:n.*931T>C
XM_005273569.1:c.*931T>C	XP_005273626.1:n.*931T>C
XM_006716367.1:c.*931T>C	XP_006716430.1:n.*931T>C
XM_005273569.2:c.*931T>C	XP_005273626.1:n.*931T>C
XM_006716367.2:c.*931T>C	XP_006716430.1:n.*931T>C
NM_005144.5:c.*931T>C MANE Select	NP_005135.2:n.*931T>C