Canonical Allele Identifier: CA4662092

Gene: HR

Linked Data

• ClinVar Variation Id: 362493
• ClinVar RCV Id: RCV000306571 ; RCV000360619 ; RCV003343797 ; RCV002523664
• dbSNP Id: rs201739936
• ExAC: 8:21978332 C / A
• gnomAD v2: 8-21978332-C-A
• gnomAD v3: 8-22120819-C-A
• gnomAD v4: 8-22120819-C-A
• MyVariant Identifiers: chr8:g.21978332C>A (hg19) ; chr8:g.22120819C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22120819C>A , CM000670.2:g.22120819C>A	GRCh38
NC_000008.10:g.21978332C>A , CM000670.1:g.21978332C>A	GRCh37
NC_000008.9:g.22034277C>A	NCBI36
NG_008166.1:g.14699G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.2507G>T MANE Select	ENSP00000370826.4:p.Arg836Leu
ENST00000680789.1:c.2507G>T	ENSP00000505181.1:p.Arg836Leu
ENST00000312841.9:c.2507G>T	ENSP00000326765.8:p.Arg836Leu
ENST00000381418.8:c.2507G>T	ENSP00000370826.4:p.Arg836Leu
ENST00000517699.2:c.448G>T
NM_005144.4:c.2507G>T	NP_005135.2:p.Arg836Leu
NM_018411.4:c.2507G>T	NP_060881.2:p.Arg836Leu
XM_005273569.1:c.2510G>T	XP_005273626.1:p.Arg837Leu
XM_006716367.1:c.2510G>T	XP_006716430.1:p.Arg837Leu
XM_005273569.2:c.2510G>T	XP_005273626.1:p.Arg837Leu
XM_006716367.2:c.2510G>T	XP_006716430.1:p.Arg837Leu
NM_005144.5:c.2507G>T MANE Select	NP_005135.2:p.Arg836Leu