Canonical Allele Identifier: CA003734

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55637
• ClinVar RCV Id: RCV001356964 ; RCV003237433 ; RCV003607227
• dbSNP Id: rs80357183
• gnomAD v2: 17-41197702-T-A
• gnomAD v3: 17-43045685-T-A
• gnomAD v4: 17-43045685-T-A
• MyVariant Identifiers: chr17:g.41197702T>A (hg19) ; chr17:g.43045685T>A (hg38)
• PubMed: PMID:10923033

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045685T>A , CM000679.2:g.43045685T>A	GRCh38
NC_000017.10:g.41197702T>A , CM000679.1:g.41197702T>A	GRCh37
NC_000017.9:g.38451228T>A	NCBI36
NG_005905.2:g.172299A>T , LRG_292:g.172299A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5582A>T	ENSP00000417241.2:p.His1861Leu
ENST00000470026.6:c.5585A>T	ENSP00000419274.2:p.His1862Leu
ENST00000473961.6:c.5459A>T	ENSP00000420201.2:p.His1820Leu
ENST00000476777.6:c.5579A>T	ENSP00000417554.2:p.His1860Leu
ENST00000477152.6:c.5507A>T	ENSP00000419988.2:p.His1836Leu
ENST00000478531.6:c.2273A>T	ENSP00000420412.2:p.His758Leu
ENST00000489037.2:c.5507A>T	ENSP00000420781.2:p.His1836Leu
ENST00000493919.6:c.2135A>T	ENSP00000418819.2:p.His712Leu
ENST00000494123.6:c.5585A>T	ENSP00000419103.2:p.His1862Leu
ENST00000497488.2:c.4697A>T	ENSP00000418986.2:p.His1566Leu
ENST00000618469.2:c.5585A>T	ENSP00000478114.2:p.His1862Leu
ENST00000634433.2:c.5462A>T	ENSP00000489431.2:p.His1821Leu
ENST00000644379.2:c.5651A>T	ENSP00000496570.2:p.His1884Leu
ENST00000644555.2:c.2135A>T	ENSP00000494614.2:p.His712Leu
ENST00000652672.2:c.5444A>T	ENSP00000498906.2:p.His1815Leu
ENST00000484087.6:c.2147A>T	ENSP00000419481.2:p.His716Leu
ENST00000700081.1:n.1468A>T
ENST00000700082.1:n.949A>T
ENST00000357654.9:c.5585A>T MANE Select	ENSP00000350283.3:p.His1862Leu
ENST00000471181.7:c.5648A>T	ENSP00000418960.2:p.His1883Leu
ENST00000644379.1:c.1972A>T
ENST00000352993.7:c.2159A>T	ENSP00000312236.5:p.His720Leu
ENST00000357654.7:c.5585A>T	ENSP00000350283.3:p.His1862Leu
ENST00000461221.5:c.*5368A>T	ENSP00000418548.1:n.*5368A>T
ENST00000468300.5:c.*99A>T	ENSP00000417148.1:n.*99A>T
ENST00000471181.6:c.5648A>T	ENSP00000418960.2:p.His1883Leu
ENST00000491747.6:c.2273A>T	ENSP00000420705.2:p.His758Leu
ENST00000493795.5:c.5444A>T	ENSP00000418775.1:p.His1815Leu
ENST00000586385.5:c.515A>T	ENSP00000465818.1:p.His172Leu
ENST00000591534.5:c.1058A>T	ENSP00000467329.1:p.His353Leu
ENST00000591849.5:c.284A>T	ENSP00000465347.1:p.His95Leu
NM_007294.3:c.5585A>T , LRG_292t1:c.5585A>T	NP_009225.1:p.His1862Leu
NM_007297.3:c.5444A>T	NP_009228.2:p.His1815Leu
NM_007298.3:c.2273A>T	NP_009229.2:p.His758Leu
NM_007299.3:c.*99A>T	NP_009230.2:n.*99A>T
NM_007300.3:c.5648A>T	NP_009231.2:p.His1883Leu
NR_027676.1:n.5721A>T
NM_007294.4:c.5585A>T MANE Select	NP_009225.1:p.His1862Leu
NM_007297.4:c.5444A>T	NP_009228.2:p.His1815Leu
NM_007299.4:c.*99A>T	NP_009230.2:n.*99A>T
NM_007300.4:c.5648A>T	NP_009231.2:p.His1883Leu
NR_027676.2:n.5762A>T