Canonical Allele Identifier: CA4661793

Gene: HR

Linked Data

• dbSNP Id: rs369095520
• ExAC: 8:21973980 C / T
• gnomAD v2: 8-21973980-C-T
• gnomAD v4: 8-22116467-C-T
• MyVariant Identifiers: chr8:g.21973980C>T (hg19) ; chr8:g.22116467C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116467C>T , CM000670.2:g.22116467C>T	GRCh38
NC_000008.10:g.21973980C>T , CM000670.1:g.21973980C>T	GRCh37
NC_000008.9:g.22029925C>T	NCBI36
NG_008166.1:g.19051G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3379-39G>A MANE Select	ENSP00000370826.4:n.3379-39G>A
ENST00000680789.1:c.3379-39G>A	ENSP00000505181.1:n.3379-39G>A
ENST00000312841.9:c.3214-39G>A	ENSP00000326765.8:n.3214-39G>A
ENST00000381418.8:c.3379-39G>A	ENSP00000370826.4:n.3379-39G>A
ENST00000522016.1:n.1572-39G>A
NM_005144.4:c.3379-39G>A	NP_005135.2:n.3379-39G>A
NM_018411.4:c.3214-39G>A	NP_060881.2:n.3214-39G>A
XM_005273569.1:c.3382-39G>A	XP_005273626.1:n.3382-39G>A
XM_006716367.1:c.3217-39G>A	XP_006716430.1:n.3217-39G>A
XM_005273569.2:c.3382-39G>A	XP_005273626.1:n.3382-39G>A
XM_006716367.2:c.3217-39G>A	XP_006716430.1:n.3217-39G>A
NM_005144.5:c.3379-39G>A MANE Select	NP_005135.2:n.3379-39G>A