Canonical Allele Identifier: CA9488648
Gene: XRCC1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.43552260C>G
GRCh37 chr19:g.44056412C>G
Revel Score:
ENST00000458471 0.056
ENST00000262887 (MANE Select) 0.056
ENST00000543982 0.056
ENST00000538738 0.056
gnomAD v2:
19:44056412 C / G
gnomAD v3:
19:43552260 C / G
gnomAD v4:
chr19-43552260-C-G
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
dbSNP:
25489
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43552260C>G , CM000681.2:g.43552260C>G GRCh38
NC_000019.9:g.44056412C>G , CM000681.1:g.44056412C>G GRCh37
NC_000019.8:g.48748252C>G NCBI36
NG_033799.1:g.28319G>C , LRG_784:g.28319G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262887.10:c.839G>C MANE Select ENSP00000262887.5:p.Arg280Pro
ENST00000262887.9:c.839G>C ENSP00000262887.4:p.Arg280Pro
ENST00000543982.5:c.746G>C ENSP00000443671.1:p.Arg249Pro
ENST00000595789.5:n.960G>C
ENST00000597811.5:c.449G>C
ENST00000598165.5:c.860G>C ENSP00000470045.1:p.Arg287Pro
ENST00000598422.1:n.519G>C
NM_006297.2:c.839G>C , LRG_784t1:c.839G>C NP_006288.2:p.Arg280Pro
NM_006297.3:c.839G>C MANE Select NP_006288.2:p.Arg280Pro
Search 100 bp 5'
Search 100 bp 3'