Canonical Allele Identifier: CA915950049

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 754040
• ClinVar RCV Id: RCV001458326
• dbSNP Id: rs1597839747

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076634A>C , CM000679.2:g.43076634A>C	GRCh38
NC_000017.10:g.41228651A>C , CM000679.1:g.41228651A>C	GRCh37
NC_000017.9:g.38482177A>C	NCBI36
NG_005905.2:g.141350T>G , LRG_292:g.141350T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4358-23T>G	ENSP00000417241.2:n.4358-23T>G
ENST00000470026.6:c.4358-20T>G	ENSP00000419274.2:n.4358-20T>G
ENST00000473961.6:c.4232-20T>G	ENSP00000420201.2:n.4232-20T>G
ENST00000476777.6:c.4352-20T>G	ENSP00000417554.2:n.4352-20T>G
ENST00000477152.6:c.4280-20T>G	ENSP00000419988.2:n.4280-20T>G
ENST00000478531.6:c.1046-20T>G	ENSP00000420412.2:n.1046-20T>G
ENST00000489037.2:c.4280-20T>G	ENSP00000420781.2:n.4280-20T>G
ENST00000493919.6:c.908-20T>G	ENSP00000418819.2:n.908-20T>G
ENST00000494123.6:c.4358-20T>G	ENSP00000419103.2:n.4358-20T>G
ENST00000497488.2:c.3470-20T>G	ENSP00000418986.2:n.3470-20T>G
ENST00000618469.2:c.4358-20T>G	ENSP00000478114.2:n.4358-20T>G
ENST00000634433.2:c.4235-20T>G	ENSP00000489431.2:n.4235-20T>G
ENST00000644379.2:c.4424-20T>G	ENSP00000496570.2:n.4424-20T>G
ENST00000644555.2:c.908-20T>G	ENSP00000494614.2:n.908-20T>G
ENST00000652672.2:c.4217-20T>G	ENSP00000498906.2:n.4217-20T>G
ENST00000484087.6:c.923-23T>G	ENSP00000419481.2:n.923-23T>G
ENST00000700182.1:c.968-23T>G	ENSP00000514849.1:n.968-23T>G
ENST00000357654.9:c.4358-20T>G MANE Select	ENSP00000350283.3:n.4358-20T>G
ENST00000471181.7:c.4424-23T>G	ENSP00000418960.2:n.4424-23T>G
ENST00000644379.1:c.745-20T>G
ENST00000352993.7:c.932-20T>G	ENSP00000312236.5:n.932-20T>G
ENST00000357654.7:c.4358-20T>G	ENSP00000350283.3:n.4358-20T>G
ENST00000461221.5:c.*4141-20T>G	ENSP00000418548.1:n.*4141-20T>G
ENST00000461574.1:c.652-23T>G
ENST00000468300.5:c.1049-23T>G	ENSP00000417148.1:n.1049-23T>G
ENST00000471181.6:c.4424-23T>G	ENSP00000418960.2:n.4424-23T>G
ENST00000478531.5:c.1046-20T>G	ENSP00000420412.1:n.1046-20T>G
ENST00000484087.5:c.671-20T>G	ENSP00000419481.1:n.671-20T>G
ENST00000487825.5:c.674-20T>G	ENSP00000418212.1:n.674-20T>G
ENST00000491747.6:c.1049-23T>G	ENSP00000420705.2:n.1049-23T>G
ENST00000493795.5:c.4217-20T>G	ENSP00000418775.1:n.4217-20T>G
ENST00000493919.5:c.908-20T>G	ENSP00000418819.1:n.908-20T>G
ENST00000586385.5:c.5-12683T>G	ENSP00000465818.1:n.5-12683T>G
ENST00000591534.5:c.-43-2113T>G	ENSP00000467329.1:n.-43-2113T>G
ENST00000591849.5:c.-98-26444T>G	ENSP00000465347.1:n.-98-26444T>G
ENST00000621897.1:n.252-23T>G
NM_007294.3:c.4358-20T>G , LRG_292t1:c.4358-20T>G	NP_009225.1:n.4358-20T>G
NM_007297.3:c.4217-20T>G	NP_009228.2:n.4217-20T>G
NM_007298.3:c.1049-23T>G	NP_009229.2:n.1049-23T>G
NM_007299.3:c.1049-23T>G	NP_009230.2:n.1049-23T>G
NM_007300.3:c.4424-23T>G	NP_009231.2:n.4424-23T>G
NR_027676.1:n.4494-20T>G
NM_007294.4:c.4358-20T>G MANE Select	NP_009225.1:n.4358-20T>G
NM_007297.4:c.4217-20T>G	NP_009228.2:n.4217-20T>G
NM_007299.4:c.1049-23T>G	NP_009230.2:n.1049-23T>G
NM_007300.4:c.4424-23T>G	NP_009231.2:n.4424-23T>G
NR_027676.2:n.4535-20T>G