Canonical Allele Identifier: CA4662081

Gene: HR

Linked Data

• ClinVar Variation Id: 362490
• ClinVar RCV Id: RCV000294513 ; RCV000351806 ; RCV002523662 ; RCV002523661
• dbSNP Id: rs377059643
• ExAC: 8:21978273 G / A
• gnomAD v2: 8-21978273-G-A
• gnomAD v3: 8-22120760-G-A
• gnomAD v4: 8-22120760-G-A
• MyVariant Identifiers: chr8:g.21978273G>A (hg19) ; chr8:g.22120760G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22120760G>A , CM000670.2:g.22120760G>A	GRCh38
NC_000008.10:g.21978273G>A , CM000670.1:g.21978273G>A	GRCh37
NC_000008.9:g.22034218G>A	NCBI36
NG_008166.1:g.14758C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.2566C>T MANE Select	ENSP00000370826.4:p.Arg856Trp
ENST00000680789.1:c.2566C>T	ENSP00000505181.1:p.Arg856Trp
ENST00000312841.9:c.2566C>T	ENSP00000326765.8:p.Arg856Trp
ENST00000381418.8:c.2566C>T	ENSP00000370826.4:p.Arg856Trp
ENST00000517699.2:c.507C>T
NM_005144.4:c.2566C>T	NP_005135.2:p.Arg856Trp
NM_018411.4:c.2566C>T	NP_060881.2:p.Arg856Trp
XM_005273569.1:c.2569C>T	XP_005273626.1:p.Arg857Trp
XM_006716367.1:c.2569C>T	XP_006716430.1:p.Arg857Trp
XM_005273569.2:c.2569C>T	XP_005273626.1:p.Arg857Trp
XM_006716367.2:c.2569C>T	XP_006716430.1:p.Arg857Trp
NM_005144.5:c.2566C>T MANE Select	NP_005135.2:p.Arg856Trp