Canonical Allele Identifier: CA4661772

Gene: HR

Linked Data

• ClinVar Variation Id: 1903011
• ClinVar RCV Id: RCV002583368
• dbSNP Id: rs752373740
• ExAC: 8:21973885 G / A
• gnomAD v2: 8-21973885-G-A
• gnomAD v3: 8-22116372-G-A
• gnomAD v4: 8-22116372-G-A
• MyVariant Identifiers: chr8:g.21973885G>A (hg19) ; chr8:g.22116372G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116372G>A , CM000670.2:g.22116372G>A	GRCh38
NC_000008.10:g.21973885G>A , CM000670.1:g.21973885G>A	GRCh37
NC_000008.9:g.22029830G>A	NCBI36
NG_008166.1:g.19146C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3435C>T MANE Select	ENSP00000370826.4:p.Thr1145=
ENST00000680789.1:c.3435C>T	ENSP00000505181.1:p.Thr1145=
ENST00000312841.9:c.3270C>T	ENSP00000326765.8:p.Thr1090=
ENST00000381418.8:c.3435C>T	ENSP00000370826.4:p.Thr1145=
ENST00000522016.1:n.1628C>T
NM_005144.4:c.3435C>T	NP_005135.2:p.Thr1145=
NM_018411.4:c.3270C>T	NP_060881.2:p.Thr1090=
XM_005273569.1:c.3438C>T	XP_005273626.1:p.Thr1146=
XM_006716367.1:c.3273C>T	XP_006716430.1:p.Thr1091=
XM_005273569.2:c.3438C>T	XP_005273626.1:p.Thr1146=
XM_006716367.2:c.3273C>T	XP_006716430.1:p.Thr1091=
NM_005144.5:c.3435C>T MANE Select	NP_005135.2:p.Thr1145=