Canonical Allele Identifier: CA10592242

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 825056
• ClinVar RCV Id: RCV001022817 ; RCV001357069 ; RCV001058892 ; RCV002465823
• dbSNP Id: rs1597835935
• MyVariant Identifiers: chr17:g.41226389T>C (hg19) ; chr17:g.43074372T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074372T>C , CM000679.2:g.43074372T>C	GRCh38
NC_000017.10:g.41226389T>C , CM000679.1:g.41226389T>C	GRCh37
NC_000017.9:g.38479915T>C	NCBI36
NG_005905.2:g.143612A>G , LRG_292:g.143612A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4631A>G	ENSP00000417241.2:p.His1544Arg
ENST00000470026.6:c.4634A>G	ENSP00000419274.2:p.His1545Arg
ENST00000473961.6:c.4508A>G	ENSP00000420201.2:p.His1503Arg
ENST00000476777.6:c.4628A>G	ENSP00000417554.2:p.His1543Arg
ENST00000477152.6:c.4556A>G	ENSP00000419988.2:p.His1519Arg
ENST00000478531.6:c.1322A>G	ENSP00000420412.2:p.His441Arg
ENST00000489037.2:c.4556A>G	ENSP00000420781.2:p.His1519Arg
ENST00000493919.6:c.1184A>G	ENSP00000418819.2:p.His395Arg
ENST00000494123.6:c.4634A>G	ENSP00000419103.2:p.His1545Arg
ENST00000497488.2:c.3746A>G	ENSP00000418986.2:p.His1249Arg
ENST00000618469.2:c.4634A>G	ENSP00000478114.2:p.His1545Arg
ENST00000634433.2:c.4511A>G	ENSP00000489431.2:p.His1504Arg
ENST00000644379.2:c.4700A>G	ENSP00000496570.2:p.His1567Arg
ENST00000644555.2:c.1184A>G	ENSP00000494614.2:p.His395Arg
ENST00000652672.2:c.4493A>G	ENSP00000498906.2:p.His1498Arg
ENST00000484087.6:c.1196A>G	ENSP00000419481.2:p.His399Arg
ENST00000700182.1:c.1241A>G	ENSP00000514849.1:p.His414Arg
ENST00000357654.9:c.4634A>G MANE Select	ENSP00000350283.3:p.His1545Arg
ENST00000471181.7:c.4697A>G	ENSP00000418960.2:p.His1566Arg
ENST00000644379.1:c.1021A>G
ENST00000352993.7:c.1208A>G	ENSP00000312236.5:p.His403Arg
ENST00000357654.7:c.4634A>G	ENSP00000350283.3:p.His1545Arg
ENST00000461221.5:c.*4417A>G	ENSP00000418548.1:n.*4417A>G
ENST00000468300.5:c.1322A>G	ENSP00000417148.1:p.His441Arg
ENST00000471181.6:c.4697A>G	ENSP00000418960.2:p.His1566Arg
ENST00000478531.5:c.1322A>G	ENSP00000420412.1:p.His441Arg
ENST00000484087.5:c.947A>G	ENSP00000419481.1:p.His316Arg
ENST00000491747.6:c.1322A>G	ENSP00000420705.2:p.His441Arg
ENST00000493795.5:c.4493A>G	ENSP00000418775.1:p.His1498Arg
ENST00000493919.5:c.1184A>G	ENSP00000418819.1:p.His395Arg
ENST00000586385.5:c.5-10421A>G	ENSP00000465818.1:n.5-10421A>G
ENST00000591534.5:c.107A>G	ENSP00000467329.1:p.His36Arg
ENST00000591849.5:c.-98-24182A>G	ENSP00000465347.1:n.-98-24182A>G
NM_007294.3:c.4634A>G , LRG_292t1:c.4634A>G	NP_009225.1:p.His1545Arg
NM_007297.3:c.4493A>G	NP_009228.2:p.His1498Arg
NM_007298.3:c.1322A>G	NP_009229.2:p.His441Arg
NM_007299.3:c.1322A>G	NP_009230.2:p.His441Arg
NM_007300.3:c.4697A>G	NP_009231.2:p.His1566Arg
NR_027676.1:n.4770A>G
NM_007294.4:c.4634A>G MANE Select	NP_009225.1:p.His1545Arg
NM_007297.4:c.4493A>G	NP_009228.2:p.His1498Arg
NM_007299.4:c.1322A>G	NP_009230.2:p.His441Arg
NM_007300.4:c.4697A>G	NP_009231.2:p.His1566Arg
NR_027676.2:n.4811A>G