Canonical Allele Identifier: CA9488516
Gene: XRCC1 HGNC NCBI
CIViC:
CA9488516
COSMIC:
COSM3756906 (not active)
MyVariant.info:
GRCh38 chr19:g.43551574T>C
GRCh37 chr19:g.44055726T>C
Revel Score:
ENST00000458471 0.072
ENST00000262887 (MANE Select) 0.072
ENST00000543982 0.072
gnomAD v2:
19:44055726 T / C
gnomAD v3:
19:43551574 T / C
gnomAD v4:
chr19-43551574-T-C
Joint Max Group AF 0.84891699 (AFR)
Genomes Max Group AF 0.84488229 (AFR)
Exomes Max Group AF 0.84880986 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43551574T>C , CM000681.2:g.43551574T>C GRCh38
NC_000019.9:g.44055726T>C , CM000681.1:g.44055726T>C GRCh37
NC_000019.8:g.48747566T>C NCBI36
NG_033799.1:g.29005A>G , LRG_784:g.29005A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262887.10:c.1196A>G MANE Select ENSP00000262887.5:p.Gln399Arg
ENST00000262887.9:c.1196A>G ENSP00000262887.4:p.Gln399Arg
ENST00000543982.5:c.1103A>G ENSP00000443671.1:p.Gln368Arg
ENST00000597811.5:c.806A>G
NM_006297.2:c.1196A>G , LRG_784t1:c.1196A>G NP_006288.2:p.Gln399Arg
NM_006297.3:c.1196A>G MANE Select NP_006288.2:p.Gln399Arg
Search 100 bp 5'
Search 100 bp 3'