Canonical Allele Identifier: CA2638063805

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43076739-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076739T>A , CM000679.2:g.43076739T>A	GRCh38
NC_000017.10:g.41228756T>A , CM000679.1:g.41228756T>A	GRCh37
NC_000017.9:g.38482282T>A	NCBI36
NG_005905.2:g.141245A>T , LRG_292:g.141245A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4358-128A>T	ENSP00000417241.2:n.4358-128A>T
ENST00000470026.6:c.4358-125A>T	ENSP00000419274.2:n.4358-125A>T
ENST00000473961.6:c.4232-125A>T	ENSP00000420201.2:n.4232-125A>T
ENST00000476777.6:c.4352-125A>T	ENSP00000417554.2:n.4352-125A>T
ENST00000477152.6:c.4280-125A>T	ENSP00000419988.2:n.4280-125A>T
ENST00000478531.6:c.1046-125A>T	ENSP00000420412.2:n.1046-125A>T
ENST00000489037.2:c.4280-125A>T	ENSP00000420781.2:n.4280-125A>T
ENST00000493919.6:c.908-125A>T	ENSP00000418819.2:n.908-125A>T
ENST00000494123.6:c.4358-125A>T	ENSP00000419103.2:n.4358-125A>T
ENST00000497488.2:c.3470-125A>T	ENSP00000418986.2:n.3470-125A>T
ENST00000618469.2:c.4358-125A>T	ENSP00000478114.2:n.4358-125A>T
ENST00000634433.2:c.4235-125A>T	ENSP00000489431.2:n.4235-125A>T
ENST00000644379.2:c.4424-125A>T	ENSP00000496570.2:n.4424-125A>T
ENST00000644555.2:c.908-125A>T	ENSP00000494614.2:n.908-125A>T
ENST00000652672.2:c.4217-125A>T	ENSP00000498906.2:n.4217-125A>T
ENST00000484087.6:c.923-128A>T	ENSP00000419481.2:n.923-128A>T
ENST00000700182.1:c.968-128A>T	ENSP00000514849.1:n.968-128A>T
ENST00000357654.9:c.4358-125A>T MANE Select	ENSP00000350283.3:n.4358-125A>T
ENST00000471181.7:c.4424-128A>T	ENSP00000418960.2:n.4424-128A>T
ENST00000644379.1:c.745-125A>T
ENST00000352993.7:c.932-125A>T	ENSP00000312236.5:n.932-125A>T
ENST00000357654.7:c.4358-125A>T	ENSP00000350283.3:n.4358-125A>T
ENST00000461221.5:c.*4141-125A>T	ENSP00000418548.1:n.*4141-125A>T
ENST00000461574.1:c.652-128A>T
ENST00000468300.5:c.1049-128A>T	ENSP00000417148.1:n.1049-128A>T
ENST00000471181.6:c.4424-128A>T	ENSP00000418960.2:n.4424-128A>T
ENST00000478531.5:c.1046-125A>T	ENSP00000420412.1:n.1046-125A>T
ENST00000484087.5:c.671-125A>T	ENSP00000419481.1:n.671-125A>T
ENST00000487825.5:c.674-125A>T	ENSP00000418212.1:n.674-125A>T
ENST00000491747.6:c.1049-128A>T	ENSP00000420705.2:n.1049-128A>T
ENST00000493795.5:c.4217-125A>T	ENSP00000418775.1:n.4217-125A>T
ENST00000493919.5:c.908-125A>T	ENSP00000418819.1:n.908-125A>T
ENST00000586385.5:c.5-12788A>T	ENSP00000465818.1:n.5-12788A>T
ENST00000591534.5:c.-43-2218A>T	ENSP00000467329.1:n.-43-2218A>T
ENST00000591849.5:c.-98-26549A>T	ENSP00000465347.1:n.-98-26549A>T
ENST00000621897.1:n.252-128A>T
NM_007294.3:c.4358-125A>T , LRG_292t1:c.4358-125A>T	NP_009225.1:n.4358-125A>T
NM_007297.3:c.4217-125A>T	NP_009228.2:n.4217-125A>T
NM_007298.3:c.1049-128A>T	NP_009229.2:n.1049-128A>T
NM_007299.3:c.1049-128A>T	NP_009230.2:n.1049-128A>T
NM_007300.3:c.4424-128A>T	NP_009231.2:n.4424-128A>T
NR_027676.1:n.4494-125A>T
NM_007294.4:c.4358-125A>T MANE Select	NP_009225.1:n.4358-125A>T
NM_007297.4:c.4217-125A>T	NP_009228.2:n.4217-125A>T
NM_007299.4:c.1049-128A>T	NP_009230.2:n.1049-128A>T
NM_007300.4:c.4424-128A>T	NP_009231.2:n.4424-128A>T
NR_027676.2:n.4535-125A>T