Canonical Allele Identifier: CA003611

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125851
• ClinVar RCV Id: RCV000112659 ; RCV000162889 ; RCV000586131
• dbSNP Id: rs80358009
• gnomAD v2: 17-41199658-A-G
• gnomAD v3: 17-43047641-A-G
• gnomAD v4: 17-43047641-A-G
• MyVariant Identifiers: chr17:g.41199658A>G (hg19) ; chr17:g.43047641A>G (hg38)
• PubMed: PMID:18694767 ; PMID:25724305

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047641A>G , CM000679.2:g.43047641A>G	GRCh38
NC_000017.10:g.41199658A>G , CM000679.1:g.41199658A>G	GRCh37
NC_000017.9:g.38453184A>G	NCBI36
NG_005905.2:g.170343T>C , LRG_292:g.170343T>C

Transcript Alleles

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