Canonical Allele Identifier: CA916080730
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 868945
ClinVar RCV Id: RCV001077947
dbSNP Id: rs2050971311

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047622A>C , CM000679.2:g.43047622A>C GRCh38
NC_000017.10:g.41199639A>C , CM000679.1:g.41199639A>C GRCh37
NC_000017.9:g.38453165A>C NCBI36
NG_005905.2:g.170362T>G , LRG_292:g.170362T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5464+21T>G ENSP00000417241.2:n.5464+21T>G
ENST00000470026.6:c.5467+21T>G ENSP00000419274.2:n.5467+21T>G
ENST00000473961.6:c.5341+21T>G ENSP00000420201.2:n.5341+21T>G
ENST00000476777.6:c.5461+21T>G ENSP00000417554.2:n.5461+21T>G
ENST00000477152.6:c.5389+21T>G ENSP00000419988.2:n.5389+21T>G
ENST00000478531.6:c.2155+21T>G ENSP00000420412.2:n.2155+21T>G
ENST00000489037.2:c.5389+21T>G ENSP00000420781.2:n.5389+21T>G
ENST00000493919.6:c.2017+21T>G ENSP00000418819.2:n.2017+21T>G
ENST00000494123.6:c.5467+21T>G ENSP00000419103.2:n.5467+21T>G
ENST00000497488.2:c.4579+21T>G ENSP00000418986.2:n.4579+21T>G
ENST00000618469.2:c.5467+21T>G ENSP00000478114.2:n.5467+21T>G
ENST00000634433.2:c.5344+21T>G ENSP00000489431.2:n.5344+21T>G
ENST00000644379.2:c.5533+21T>G ENSP00000496570.2:n.5533+21T>G
ENST00000644555.2:c.2017+21T>G ENSP00000494614.2:n.2017+21T>G
ENST00000652672.2:c.5326+21T>G ENSP00000498906.2:n.5326+21T>G
ENST00000484087.6:c.2029+21T>G ENSP00000419481.2:n.2029+21T>G
ENST00000700081.1:n.1350+21T>G
ENST00000700082.1:n.831+21T>G
ENST00000357654.9:c.5467+21T>G MANE Select ENSP00000350283.3:n.5467+21T>G
ENST00000471181.7:c.5530+21T>G ENSP00000418960.2:n.5530+21T>G
ENST00000644379.1:c.1854+21T>G
ENST00000352993.7:c.2041+21T>G ENSP00000312236.5:n.2041+21T>G
ENST00000357654.7:c.5467+21T>G ENSP00000350283.3:n.5467+21T>G
ENST00000461221.5:c.*5250+21T>G ENSP00000418548.1:n.*5250+21T>G
ENST00000468300.5:c.2081+21T>G ENSP00000417148.1:n.2081+21T>G
ENST00000471181.6:c.5530+21T>G ENSP00000418960.2:n.5530+21T>G
ENST00000491747.6:c.2155+21T>G ENSP00000420705.2:n.2155+21T>G
ENST00000493795.5:c.5326+21T>G ENSP00000418775.1:n.5326+21T>G
ENST00000586385.5:c.397+21T>G ENSP00000465818.1:n.397+21T>G
ENST00000591534.5:c.940+21T>G ENSP00000467329.1:n.940+21T>G
ENST00000591849.5:c.166+21T>G ENSP00000465347.1:n.166+21T>G
NM_007294.3:c.5467+21T>G , LRG_292t1:c.5467+21T>G NP_009225.1:n.5467+21T>G
NM_007297.3:c.5326+21T>G NP_009228.2:n.5326+21T>G
NM_007298.3:c.2155+21T>G NP_009229.2:n.2155+21T>G
NM_007299.3:c.2081+21T>G NP_009230.2:n.2081+21T>G
NM_007300.3:c.5530+21T>G NP_009231.2:n.5530+21T>G
NR_027676.1:n.5603+21T>G
NM_007294.4:c.5467+21T>G MANE Select NP_009225.1:n.5467+21T>G
NM_007297.4:c.5326+21T>G NP_009228.2:n.5326+21T>G
NM_007299.4:c.2081+21T>G NP_009230.2:n.2081+21T>G
NM_007300.4:c.5530+21T>G NP_009231.2:n.5530+21T>G
NR_027676.2:n.5644+21T>G