Canonical Allele Identifier: CA000712
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 41803
dbSNP Id: rs1799950

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094464T>C , CM000679.2:g.43094464T>C GRCh38
NC_000017.10:g.41246481T>C , CM000679.1:g.41246481T>C GRCh37
NC_000017.9:g.38500007T>C NCBI36
NG_005905.2:g.123520A>G , LRG_292:g.123520A>G

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.1067A>G , LRG_292t1:c.1067A>G NP_009225.1:p.Gln356Arg
NM_007297.3:c.926A>G VV NP_009228.2:p.Gln309Arg
NM_007298.3:c.787+280A>G VV NP_009229.2:p.=
NM_007299.3:c.787+280A>G VV NP_009230.2:p.=
NM_007300.3:c.1067A>G VV NP_009231.2:p.Gln356Arg
NR_027676.1:n.1203A>G
ENST00000352993.7:c.670+1382A>G ENSP00000312236.5:p.=
ENST00000354071.7:c.1067A>G ENSP00000326002.7:p.Gln356Arg
ENST00000357654.7:c.1067A>G ENSP00000350283.3:p.Gln356Arg
ENST00000412061.3:n.418A>G
ENST00000461221.5:c.*850A>G ENSP00000418548.1:p.=
ENST00000468300.5:c.787+280A>G ENSP00000417148.1:p.=
ENST00000470026.5:c.1067A>G ENSP00000419274.1:p.Gln356Arg
ENST00000471181.6:c.1067A>G ENSP00000418960.2:p.Gln356Arg
ENST00000473961.5:n.664A>G
ENST00000477152.5:c.989A>G ENSP00000419988.1:p.Gln330Arg
ENST00000478531.5:c.784+280A>G ENSP00000420412.1:p.=
ENST00000484087.5:n.409+280A>G ENSP00000419481.1:p.=
ENST00000487825.5:n.412+280A>G ENSP00000418212.1:p.=
ENST00000491747.6:c.787+280A>G ENSP00000420705.2:p.=
ENST00000492859.5:c.*1003A>G ENSP00000420253.1:p.=
ENST00000493795.5:c.926A>G ENSP00000418775.1:p.Gln309Arg
ENST00000493919.5:c.646+280A>G ENSP00000418819.1:p.=
ENST00000494123.5:c.1067A>G ENSP00000419103.1:p.Gln356Arg
ENST00000497488.1:c.179A>G ENSP00000418986.1:p.Gln60Arg
ENST00000586385.5:c.5-30513A>G ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-19943A>G ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+30807A>G ENSP00000465347.1:p.=
ENST00000634433.1:c.944A>G ENSP00000489431.1:p.Gln315Arg