Canonical Allele Identifier: CA10591553

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868081
• ClinVar RCV Id: RCV001076904 ; RCV001214782
• dbSNP Id: rs28897695
• gnomAD v4: 17-43070929-A-C
• MyVariant Identifiers: chr17:g.41222946A>C (hg19) ; chr17:g.43070929A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070929A>C , CM000679.2:g.43070929A>C	GRCh38
NC_000017.10:g.41222946A>C , CM000679.1:g.41222946A>C	GRCh37
NC_000017.9:g.38476472A>C	NCBI36
NG_005905.2:g.147055T>G , LRG_292:g.147055T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4982T>G	ENSP00000417241.2:p.Phe1661Cys
ENST00000470026.6:c.4985T>G	ENSP00000419274.2:p.Phe1662Cys
ENST00000473961.6:c.4859T>G	ENSP00000420201.2:p.Phe1620Cys
ENST00000476777.6:c.4979T>G	ENSP00000417554.2:p.Phe1660Cys
ENST00000477152.6:c.4907T>G	ENSP00000419988.2:p.Phe1636Cys
ENST00000478531.6:c.1673T>G	ENSP00000420412.2:p.Phe558Cys
ENST00000489037.2:c.4907T>G	ENSP00000420781.2:p.Phe1636Cys
ENST00000493919.6:c.1535T>G	ENSP00000418819.2:p.Phe512Cys
ENST00000494123.6:c.4985T>G	ENSP00000419103.2:p.Phe1662Cys
ENST00000497488.2:c.4097T>G	ENSP00000418986.2:p.Phe1366Cys
ENST00000618469.2:c.4985T>G	ENSP00000478114.2:p.Phe1662Cys
ENST00000634433.2:c.4862T>G	ENSP00000489431.2:p.Phe1621Cys
ENST00000644379.2:c.5051T>G	ENSP00000496570.2:p.Phe1684Cys
ENST00000644555.2:c.1535T>G	ENSP00000494614.2:p.Phe512Cys
ENST00000652672.2:c.4844T>G	ENSP00000498906.2:p.Phe1615Cys
ENST00000484087.6:c.1547T>G	ENSP00000419481.2:p.Phe516Cys
ENST00000700182.1:c.1592T>G	ENSP00000514849.1:p.Phe531Cys
ENST00000357654.9:c.4985T>G MANE Select	ENSP00000350283.3:p.Phe1662Cys
ENST00000471181.7:c.5048T>G	ENSP00000418960.2:p.Phe1683Cys
ENST00000644379.1:c.1372T>G
ENST00000352993.7:c.1559T>G	ENSP00000312236.5:p.Phe520Cys
ENST00000357654.7:c.4985T>G	ENSP00000350283.3:p.Phe1662Cys
ENST00000461221.5:c.*4768T>G	ENSP00000418548.1:n.*4768T>G
ENST00000468300.5:c.1673T>G	ENSP00000417148.1:p.Phe558Cys
ENST00000471181.6:c.5048T>G	ENSP00000418960.2:p.Phe1683Cys
ENST00000472490.1:n.138T>G
ENST00000478531.5:c.1673T>G	ENSP00000420412.1:p.Phe558Cys
ENST00000484087.5:c.1298T>G	ENSP00000419481.1:p.Phe433Cys
ENST00000491747.6:c.1673T>G	ENSP00000420705.2:p.Phe558Cys
ENST00000493795.5:c.4844T>G	ENSP00000418775.1:p.Phe1615Cys
ENST00000493919.5:c.1535T>G	ENSP00000418819.1:p.Phe512Cys
ENST00000586385.5:c.5-6978T>G	ENSP00000465818.1:n.5-6978T>G
ENST00000591534.5:c.458T>G	ENSP00000467329.1:p.Phe153Cys
ENST00000591849.5:c.-98-20739T>G	ENSP00000465347.1:n.-98-20739T>G
NM_007294.3:c.4985T>G , LRG_292t1:c.4985T>G	NP_009225.1:p.Phe1662Cys
NM_007297.3:c.4844T>G	NP_009228.2:p.Phe1615Cys
NM_007298.3:c.1673T>G	NP_009229.2:p.Phe558Cys
NM_007299.3:c.1673T>G	NP_009230.2:p.Phe558Cys
NM_007300.3:c.5048T>G	NP_009231.2:p.Phe1683Cys
NR_027676.1:n.5121T>G
NM_007294.4:c.4985T>G MANE Select	NP_009225.1:p.Phe1662Cys
NM_007297.4:c.4844T>G	NP_009228.2:p.Phe1615Cys
NM_007299.4:c.1673T>G	NP_009230.2:p.Phe558Cys
NM_007300.4:c.5048T>G	NP_009231.2:p.Phe1683Cys
NR_027676.2:n.5162T>G