Canonical Allele Identifier: CA580534447

Gene: HR

Linked Data

• dbSNP Id: rs201040777
• gnomAD v2: 8-21973792-G-C
• gnomAD v4: 8-22116279-G-C
• MyVariant Identifiers: chr8:g.21973792G>C (hg19) ; chr8:g.22116279G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116279G>C , CM000670.2:g.22116279G>C	GRCh38
NC_000008.10:g.21973792G>C , CM000670.1:g.21973792G>C	GRCh37
NC_000008.9:g.22029737G>C	NCBI36
NG_008166.1:g.19239C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3507+21C>G MANE Select	ENSP00000370826.4:n.3507+21C>G
ENST00000680789.1:c.3507+21C>G	ENSP00000505181.1:n.3507+21C>G
ENST00000312841.9:c.3342+21C>G	ENSP00000326765.8:n.3342+21C>G
ENST00000381418.8:c.3507+21C>G	ENSP00000370826.4:n.3507+21C>G
ENST00000522016.1:n.1700+21C>G
NM_005144.4:c.3507+21C>G	NP_005135.2:n.3507+21C>G
NM_018411.4:c.3342+21C>G	NP_060881.2:n.3342+21C>G
XM_005273569.1:c.3510+21C>G	XP_005273626.1:n.3510+21C>G
XM_006716367.1:c.3345+21C>G	XP_006716430.1:n.3345+21C>G
XM_005273569.2:c.3510+21C>G	XP_005273626.1:n.3510+21C>G
XM_006716367.2:c.3345+21C>G	XP_006716430.1:n.3345+21C>G
NM_005144.5:c.3507+21C>G MANE Select	NP_005135.2:n.3507+21C>G