Canonical Allele Identifier: CA915950052

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 793908
• ClinVar RCV Id: RCV000977123
• dbSNP Id: rs1597847491

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082384G>A , CM000679.2:g.43082384G>A	GRCh38
NC_000017.10:g.41234401G>A , CM000679.1:g.41234401G>A	GRCh37
NC_000017.9:g.38487927G>A	NCBI36
NG_005905.2:g.135600C>T , LRG_292:g.135600C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4357+20C>T	ENSP00000417241.2:n.4357+20C>T
ENST00000470026.6:c.4357+20C>T	ENSP00000419274.2:n.4357+20C>T
ENST00000473961.6:c.4231+20C>T	ENSP00000420201.2:n.4231+20C>T
ENST00000476777.6:c.4351+20C>T	ENSP00000417554.2:n.4351+20C>T
ENST00000477152.6:c.4279+20C>T	ENSP00000419988.2:n.4279+20C>T
ENST00000478531.6:c.1045+20C>T	ENSP00000420412.2:n.1045+20C>T
ENST00000489037.2:c.4279+20C>T	ENSP00000420781.2:n.4279+20C>T
ENST00000493919.6:c.907+20C>T	ENSP00000418819.2:n.907+20C>T
ENST00000494123.6:c.4357+20C>T	ENSP00000419103.2:n.4357+20C>T
ENST00000497488.2:c.3469+20C>T	ENSP00000418986.2:n.3469+20C>T
ENST00000618469.2:c.4357+20C>T	ENSP00000478114.2:n.4357+20C>T
ENST00000634433.2:c.4234+20C>T	ENSP00000489431.2:n.4234+20C>T
ENST00000644379.2:c.4357+20C>T	ENSP00000496570.2:n.4357+20C>T
ENST00000644555.2:c.907+20C>T	ENSP00000494614.2:n.907+20C>T
ENST00000652672.2:c.4216+20C>T	ENSP00000498906.2:n.4216+20C>T
ENST00000484087.6:c.922+20C>T	ENSP00000419481.2:n.922+20C>T
ENST00000700182.1:c.967+20C>T	ENSP00000514849.1:n.967+20C>T
ENST00000357654.9:c.4357+20C>T MANE Select	ENSP00000350283.3:n.4357+20C>T
ENST00000471181.7:c.4357+20C>T	ENSP00000418960.2:n.4357+20C>T
ENST00000644379.1:c.678+20C>T
ENST00000352993.7:c.931+20C>T	ENSP00000312236.5:n.931+20C>T
ENST00000357654.7:c.4357+20C>T	ENSP00000350283.3:n.4357+20C>T
ENST00000461221.5:c.*4140+20C>T	ENSP00000418548.1:n.*4140+20C>T
ENST00000461574.1:c.651+20C>T
ENST00000468300.5:c.1048+20C>T	ENSP00000417148.1:n.1048+20C>T
ENST00000471181.6:c.4357+20C>T	ENSP00000418960.2:n.4357+20C>T
ENST00000478531.5:c.1045+20C>T	ENSP00000420412.1:n.1045+20C>T
ENST00000484087.5:c.670+20C>T	ENSP00000419481.1:n.670+20C>T
ENST00000487825.5:c.673+20C>T	ENSP00000418212.1:n.673+20C>T
ENST00000491747.6:c.1048+20C>T	ENSP00000420705.2:n.1048+20C>T
ENST00000493795.5:c.4216+20C>T	ENSP00000418775.1:n.4216+20C>T
ENST00000493919.5:c.907+20C>T	ENSP00000418819.1:n.907+20C>T
ENST00000586385.5:c.5-18433C>T	ENSP00000465818.1:n.5-18433C>T
ENST00000591534.5:c.-43-7863C>T	ENSP00000467329.1:n.-43-7863C>T
ENST00000591849.5:c.-98-32194C>T	ENSP00000465347.1:n.-98-32194C>T
ENST00000621897.1:n.251+20C>T
NM_007294.3:c.4357+20C>T , LRG_292t1:c.4357+20C>T	NP_009225.1:n.4357+20C>T
NM_007297.3:c.4216+20C>T	NP_009228.2:n.4216+20C>T
NM_007298.3:c.1048+20C>T	NP_009229.2:n.1048+20C>T
NM_007299.3:c.1048+20C>T	NP_009230.2:n.1048+20C>T
NM_007300.3:c.4357+20C>T	NP_009231.2:n.4357+20C>T
NR_027676.1:n.4493+20C>T
NM_007294.4:c.4357+20C>T MANE Select	NP_009225.1:n.4357+20C>T
NM_007297.4:c.4216+20C>T	NP_009228.2:n.4216+20C>T
NM_007299.4:c.1048+20C>T	NP_009230.2:n.1048+20C>T
NM_007300.4:c.4357+20C>T	NP_009231.2:n.4357+20C>T
NR_027676.2:n.4534+20C>T