Canonical Allele Identifier: CA4662135

Gene: HR

Linked Data

• ClinVar Variation Id: 362496
• ClinVar RCV Id: RCV000319714 ; RCV000372091 ; RCV002523666
• dbSNP Id: rs112532092
• ExAC: 8:21978564 G / A
• gnomAD v2: 8-21978564-G-A
• gnomAD v3: 8-22121051-G-A
• gnomAD v4: 8-22121051-G-A
• MyVariant Identifiers: chr8:g.21978564G>A (hg19) ; chr8:g.22121051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22121051G>A , CM000670.2:g.22121051G>A	GRCh38
NC_000008.10:g.21978564G>A , CM000670.1:g.21978564G>A	GRCh37
NC_000008.9:g.22034509G>A	NCBI36
NG_008166.1:g.14467C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.2367+14C>T MANE Select	ENSP00000370826.4:n.2367+14C>T
ENST00000680789.1:c.2367+14C>T	ENSP00000505181.1:n.2367+14C>T
ENST00000312841.9:c.2367+14C>T	ENSP00000326765.8:n.2367+14C>T
ENST00000381418.8:c.2367+14C>T	ENSP00000370826.4:n.2367+14C>T
ENST00000517699.2:c.308+14C>T
ENST00000518461.2:n.444+14C>T
NM_005144.4:c.2367+14C>T	NP_005135.2:n.2367+14C>T
NM_018411.4:c.2367+14C>T	NP_060881.2:n.2367+14C>T
XM_005273569.1:c.2370+14C>T	XP_005273626.1:n.2370+14C>T
XM_006716367.1:c.2370+14C>T	XP_006716430.1:n.2370+14C>T
XM_005273569.2:c.2370+14C>T	XP_005273626.1:n.2370+14C>T
XM_006716367.2:c.2370+14C>T	XP_006716430.1:n.2370+14C>T
NM_005144.5:c.2367+14C>T MANE Select	NP_005135.2:n.2367+14C>T