Canonical Allele Identifier: CA4661767

Gene: HR

Linked Data

• ClinVar Variation Id: 362475
• ClinVar RCV Id: RCV000275606 ; RCV000388519 ; RCV001258244 ; RCV002523654
• dbSNP Id: rs201030061
• ExAC: 8:21973850 G / C
• gnomAD v2: 8-21973850-G-C
• gnomAD v3: 8-22116337-G-C
• gnomAD v4: 8-22116337-G-C
• MyVariant Identifiers: chr8:g.21973850G>C (hg19) ; chr8:g.22116337G>C (hg38)
• PubMed: PMID:21919222 ; PMID:23548463 ; PMID:27535533

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116337G>C , CM000670.2:g.22116337G>C	GRCh38
NC_000008.10:g.21973850G>C , CM000670.1:g.21973850G>C	GRCh37
NC_000008.9:g.22029795G>C	NCBI36
NG_008166.1:g.19181C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3470C>G MANE Select	ENSP00000370826.4:p.Pro1157Arg
ENST00000680789.1:c.3470C>G	ENSP00000505181.1:p.Pro1157Arg
ENST00000312841.9:c.3305C>G	ENSP00000326765.8:p.Pro1102Arg
ENST00000381418.8:c.3470C>G	ENSP00000370826.4:p.Pro1157Arg
ENST00000522016.1:n.1663C>G
NM_005144.4:c.3470C>G	NP_005135.2:p.Pro1157Arg
NM_018411.4:c.3305C>G	NP_060881.2:p.Pro1102Arg
XM_005273569.1:c.3473C>G	XP_005273626.1:p.Pro1158Arg
XM_006716367.1:c.3308C>G	XP_006716430.1:p.Pro1103Arg
XM_005273569.2:c.3473C>G	XP_005273626.1:p.Pro1158Arg
XM_006716367.2:c.3308C>G	XP_006716430.1:p.Pro1103Arg
NM_005144.5:c.3470C>G MANE Select	NP_005135.2:p.Pro1157Arg