Canonical Allele Identifier: CA10594280
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 640718
dbSNP Id: rs1597860926

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091688C>A , CM000679.2:g.43091688C>A GRCh38
NC_000017.10:g.41243705C>A , CM000679.1:g.41243705C>A GRCh37
NC_000017.9:g.38497231C>A NCBI36
NG_005905.2:g.126296G>T , LRG_292:g.126296G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3907G>T
ENST00000461574.2:c.3843G>T ENSP00000417241.2:p.Gln1281His
ENST00000470026.6:c.3843G>T ENSP00000419274.2:p.Gln1281His
ENST00000473961.6:c.3717G>T ENSP00000420201.2:p.Gln1239His
ENST00000476777.6:c.3840G>T ENSP00000417554.2:p.Gln1280His
ENST00000477152.6:c.3765G>T ENSP00000419988.2:p.Gln1255His
ENST00000478531.6:c.785-656G>T ENSP00000420412.2:n.785-656G>T
ENST00000489037.2:c.3765G>T ENSP00000420781.2:p.Gln1255His
ENST00000493919.6:c.647-656G>T ENSP00000418819.2:n.647-656G>T
ENST00000494123.6:c.3843G>T ENSP00000419103.2:p.Gln1281His
ENST00000497488.2:c.2955G>T ENSP00000418986.2:p.Gln985His
ENST00000618469.2:c.3843G>T ENSP00000478114.2:p.Gln1281His
ENST00000634433.2:c.3720G>T ENSP00000489431.2:p.Gln1240His
ENST00000644379.2:c.3843G>T ENSP00000496570.2:p.Gln1281His
ENST00000644555.2:c.647-656G>T ENSP00000494614.2:n.647-656G>T
ENST00000652672.2:c.3702G>T ENSP00000498906.2:p.Gln1234His
ENST00000484087.6:c.665-656G>T ENSP00000419481.2:n.665-656G>T
ENST00000700182.1:c.707-656G>T ENSP00000514849.1:n.707-656G>T
ENST00000357654.9:c.3843G>T MANE Select ENSP00000350283.3:p.Gln1281His
ENST00000471181.7:c.3843G>T ENSP00000418960.2:p.Gln1281His
ENST00000644379.1:c.164G>T
ENST00000352993.7:c.671-656G>T ENSP00000312236.5:n.671-656G>T
ENST00000354071.7:c.3843G>T ENSP00000326002.7:p.Gln1281His
ENST00000357654.7:c.3843G>T ENSP00000350283.3:p.Gln1281His
ENST00000461221.5:c.*3626G>T ENSP00000418548.1:n.*3626G>T
ENST00000461574.1:c.137G>T
ENST00000468300.5:c.788-656G>T ENSP00000417148.1:n.788-656G>T
ENST00000471181.6:c.3843G>T ENSP00000418960.2:p.Gln1281His
ENST00000478531.5:c.785-656G>T ENSP00000420412.1:n.785-656G>T
ENST00000484087.5:c.410-656G>T ENSP00000419481.1:n.410-656G>T
ENST00000487825.5:c.413-656G>T ENSP00000418212.1:n.413-656G>T
ENST00000491747.6:c.788-656G>T ENSP00000420705.2:n.788-656G>T
ENST00000493795.5:c.3702G>T ENSP00000418775.1:p.Gln1234His
ENST00000493919.5:c.647-656G>T ENSP00000418819.1:n.647-656G>T
ENST00000586385.5:c.5-27737G>T ENSP00000465818.1:n.5-27737G>T
ENST00000591534.5:c.-43-17167G>T ENSP00000467329.1:n.-43-17167G>T
ENST00000591849.5:c.-99+33583G>T ENSP00000465347.1:n.-99+33583G>T
NM_007294.3:c.3843G>T , LRG_292t1:c.3843G>T NP_009225.1:p.Gln1281His
NM_007297.3:c.3702G>T NP_009228.2:p.Gln1234His
NM_007298.3:c.788-656G>T NP_009229.2:n.788-656G>T
NM_007299.3:c.788-656G>T NP_009230.2:n.788-656G>T
NM_007300.3:c.3843G>T NP_009231.2:p.Gln1281His
NR_027676.1:n.3979G>T
NM_007294.4:c.3843G>T MANE Select NP_009225.1:p.Gln1281His
NM_007297.4:c.3702G>T NP_009228.2:p.Gln1234His
NM_007299.4:c.788-656G>T NP_009230.2:n.788-656G>T
NM_007300.4:c.3843G>T NP_009231.2:p.Gln1281His
NR_027676.2:n.4020G>T