Canonical Allele Identifier: CA9488647
Gene: XRCC1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.43552260C>T
GRCh37 chr19:g.44056412C>T
Revel Score:
ENST00000458471 0.036
ENST00000262887 (MANE Select) 0.036
ENST00000543982 0.036
ENST00000538738 0.036
gnomAD v2:
19:44056412 C / T
gnomAD v3:
19:43552260 C / T
gnomAD v4:
chr19-43552260-C-T
Joint Max Group AF 0.12957007 (MID)
Genomes Max Group AF 0.08981284 (EAS)
Exomes Max Group AF 0.1274165 (MID)
ClinVar RCV:
RCV003329491
ClinVar Variation:
2580278
dbSNP:
25489
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000262887.10:c.839G>A MANE Select ENSP00000262887.5:p.Arg280His
ENST00000262887.9:c.839G>A ENSP00000262887.4:p.Arg280His
ENST00000543982.5:c.746G>A ENSP00000443671.1:p.Arg249His
ENST00000595789.5:n.960G>A
ENST00000597811.5:c.449G>A
ENST00000598165.5:c.860G>A ENSP00000470045.1:p.Arg287His
ENST00000598422.1:n.519G>A
NM_006297.2:c.839G>A , LRG_784t1:c.839G>A NP_006288.2:p.Arg280His
NM_006297.3:c.839G>A MANE Select NP_006288.2:p.Arg280His
Search 100 bp 5'
Search 100 bp 3'