Canonical Allele Identifier: CA370492238

Gene: HR

Linked Data

• ClinVar Variation Id: 3064835
• ClinVar RCV Id: RCV003989912
• gnomAD v4: 8-22123648-C-T
• MyVariant Identifiers: chr8:g.21981161C>T (hg19) ; chr8:g.22123648C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123648C>T , CM000670.2:g.22123648C>T	GRCh38
NC_000008.10:g.21981161C>T , CM000670.1:g.21981161C>T	GRCh37
NC_000008.9:g.22037106C>T	NCBI36
NG_008166.1:g.11870G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.1915+1G>A MANE Select	ENSP00000370826.4:n.1915+1G>A
ENST00000680789.1:c.1915+1G>A	ENSP00000505181.1:n.1915+1G>A
ENST00000312841.9:c.1915+1G>A	ENSP00000326765.8:n.1915+1G>A
ENST00000381418.8:c.1915+1G>A	ENSP00000370826.4:n.1915+1G>A
NM_005144.4:c.1915+1G>A	NP_005135.2:n.1915+1G>A
NM_018411.4:c.1915+1G>A	NP_060881.2:n.1915+1G>A
XM_005273569.1:c.1918+1G>A	XP_005273626.1:n.1918+1G>A
XM_006716367.1:c.1918+1G>A	XP_006716430.1:n.1918+1G>A
XM_005273569.2:c.1918+1G>A	XP_005273626.1:n.1918+1G>A
XM_006716367.2:c.1918+1G>A	XP_006716430.1:n.1918+1G>A
NM_005144.5:c.1915+1G>A MANE Select	NP_005135.2:n.1915+1G>A