Canonical Allele Identifier: CA003177

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 183179
• ClinVar RCV Id: RCV000162048 ; RCV000468314 ; RCV000483050 ; RCV000509750
• dbSNP Id: rs730882166
• gnomAD v4: 17-43067625-T-C
• MyVariant Identifiers: chr17:g.41219642T>C (hg19) ; chr17:g.43067625T>C (hg38)
• PubMed: PMID:12496477 ; PMID:18757339 ; PMID:23867111

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067625T>C , CM000679.2:g.43067625T>C	GRCh38
NC_000017.10:g.41219642T>C , CM000679.1:g.41219642T>C	GRCh37
NC_000017.9:g.38473168T>C	NCBI36
NG_005905.2:g.150359A>G , LRG_292:g.150359A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5054A>G	ENSP00000417241.2:p.His1685Arg
ENST00000470026.6:c.5057A>G	ENSP00000419274.2:p.His1686Arg
ENST00000473961.6:c.4931A>G	ENSP00000420201.2:p.His1644Arg
ENST00000476777.6:c.5051A>G	ENSP00000417554.2:p.His1684Arg
ENST00000477152.6:c.4979A>G	ENSP00000419988.2:p.His1660Arg
ENST00000478531.6:c.1745A>G	ENSP00000420412.2:p.His582Arg
ENST00000489037.2:c.4979A>G	ENSP00000420781.2:p.His1660Arg
ENST00000493919.6:c.1607A>G	ENSP00000418819.2:p.His536Arg
ENST00000494123.6:c.5057A>G	ENSP00000419103.2:p.His1686Arg
ENST00000497488.2:c.4169A>G	ENSP00000418986.2:p.His1390Arg
ENST00000618469.2:c.5057A>G	ENSP00000478114.2:p.His1686Arg
ENST00000634433.2:c.4934A>G	ENSP00000489431.2:p.His1645Arg
ENST00000644379.2:c.5123A>G	ENSP00000496570.2:p.His1708Arg
ENST00000644555.2:c.1607A>G	ENSP00000494614.2:p.His536Arg
ENST00000652672.2:c.4916A>G	ENSP00000498906.2:p.His1639Arg
ENST00000484087.6:c.1619A>G	ENSP00000419481.2:p.His540Arg
ENST00000357654.9:c.5057A>G MANE Select	ENSP00000350283.3:p.His1686Arg
ENST00000471181.7:c.5120A>G	ENSP00000418960.2:p.His1707Arg
ENST00000644379.1:c.1444A>G
ENST00000352993.7:c.1631A>G	ENSP00000312236.5:p.His544Arg
ENST00000357654.7:c.5057A>G	ENSP00000350283.3:p.His1686Arg
ENST00000461221.5:c.*4840A>G	ENSP00000418548.1:n.*4840A>G
ENST00000468300.5:c.1745A>G	ENSP00000417148.1:p.His582Arg
ENST00000471181.6:c.5120A>G	ENSP00000418960.2:p.His1707Arg
ENST00000472490.1:n.210A>G
ENST00000478531.5:c.1745A>G	ENSP00000420412.1:p.His582Arg
ENST00000484087.5:c.1370A>G	ENSP00000419481.1:p.His457Arg
ENST00000491747.6:c.1745A>G	ENSP00000420705.2:p.His582Arg
ENST00000493795.5:c.4916A>G	ENSP00000418775.1:p.His1639Arg
ENST00000493919.5:c.1607A>G	ENSP00000418819.1:p.His536Arg
ENST00000586385.5:c.5-3674A>G	ENSP00000465818.1:n.5-3674A>G
ENST00000591534.5:c.530A>G	ENSP00000467329.1:p.His177Arg
ENST00000591849.5:c.-98-17435A>G	ENSP00000465347.1:n.-98-17435A>G
NM_007294.3:c.5057A>G , LRG_292t1:c.5057A>G	NP_009225.1:p.His1686Arg
NM_007297.3:c.4916A>G	NP_009228.2:p.His1639Arg
NM_007298.3:c.1745A>G	NP_009229.2:p.His582Arg
NM_007299.3:c.1745A>G	NP_009230.2:p.His582Arg
NM_007300.3:c.5120A>G	NP_009231.2:p.His1707Arg
NR_027676.1:n.5193A>G
NM_007294.4:c.5057A>G MANE Select	NP_009225.1:p.His1686Arg
NM_007297.4:c.4916A>G	NP_009228.2:p.His1639Arg
NM_007299.4:c.1745A>G	NP_009230.2:p.His582Arg
NM_007300.4:c.5120A>G	NP_009231.2:p.His1707Arg
NR_027676.2:n.5234A>G