Canonical Allele Identifier: CA002785

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125709
• ClinVar RCV Id: RCV000112323 ; RCV000208968 ; RCV000476948 ; RCV000503206 ; RCV001082538
• dbSNP Id: rs80358180
• ExAC: 17:41234404 T / C
• gnomAD v2: 17-41234404-T-C
• gnomAD v3: 17-43082387-T-C
• gnomAD v4: 17-43082387-T-C
• MyVariant Identifiers: chr17:g.41234404T>C (hg19) ; chr17:g.43082387T>C (hg38)
• PubMed: PMID:20104584 ; PMID:25556971

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082387T>C , CM000679.2:g.43082387T>C	GRCh38
NC_000017.10:g.41234404T>C , CM000679.1:g.41234404T>C	GRCh37
NC_000017.9:g.38487930T>C	NCBI36
NG_005905.2:g.135597A>G , LRG_292:g.135597A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4357+17A>G	ENSP00000417241.2:n.4357+17A>G
ENST00000470026.6:c.4357+17A>G	ENSP00000419274.2:n.4357+17A>G
ENST00000473961.6:c.4231+17A>G	ENSP00000420201.2:n.4231+17A>G
ENST00000476777.6:c.4351+17A>G	ENSP00000417554.2:n.4351+17A>G
ENST00000477152.6:c.4279+17A>G	ENSP00000419988.2:n.4279+17A>G
ENST00000478531.6:c.1045+17A>G	ENSP00000420412.2:n.1045+17A>G
ENST00000489037.2:c.4279+17A>G	ENSP00000420781.2:n.4279+17A>G
ENST00000493919.6:c.907+17A>G	ENSP00000418819.2:n.907+17A>G
ENST00000494123.6:c.4357+17A>G	ENSP00000419103.2:n.4357+17A>G
ENST00000497488.2:c.3469+17A>G	ENSP00000418986.2:n.3469+17A>G
ENST00000618469.2:c.4357+17A>G	ENSP00000478114.2:n.4357+17A>G
ENST00000634433.2:c.4234+17A>G	ENSP00000489431.2:n.4234+17A>G
ENST00000644379.2:c.4357+17A>G	ENSP00000496570.2:n.4357+17A>G
ENST00000644555.2:c.907+17A>G	ENSP00000494614.2:n.907+17A>G
ENST00000652672.2:c.4216+17A>G	ENSP00000498906.2:n.4216+17A>G
ENST00000484087.6:c.922+17A>G	ENSP00000419481.2:n.922+17A>G
ENST00000700182.1:c.967+17A>G	ENSP00000514849.1:n.967+17A>G
ENST00000357654.9:c.4357+17A>G MANE Select	ENSP00000350283.3:n.4357+17A>G
ENST00000471181.7:c.4357+17A>G	ENSP00000418960.2:n.4357+17A>G
ENST00000644379.1:c.678+17A>G
ENST00000352993.7:c.931+17A>G	ENSP00000312236.5:n.931+17A>G
ENST00000357654.7:c.4357+17A>G	ENSP00000350283.3:n.4357+17A>G
ENST00000461221.5:c.*4140+17A>G	ENSP00000418548.1:n.*4140+17A>G
ENST00000461574.1:c.651+17A>G
ENST00000468300.5:c.1048+17A>G	ENSP00000417148.1:n.1048+17A>G
ENST00000471181.6:c.4357+17A>G	ENSP00000418960.2:n.4357+17A>G
ENST00000478531.5:c.1045+17A>G	ENSP00000420412.1:n.1045+17A>G
ENST00000484087.5:c.670+17A>G	ENSP00000419481.1:n.670+17A>G
ENST00000487825.5:c.673+17A>G	ENSP00000418212.1:n.673+17A>G
ENST00000491747.6:c.1048+17A>G	ENSP00000420705.2:n.1048+17A>G
ENST00000493795.5:c.4216+17A>G	ENSP00000418775.1:n.4216+17A>G
ENST00000493919.5:c.907+17A>G	ENSP00000418819.1:n.907+17A>G
ENST00000586385.5:c.5-18436A>G	ENSP00000465818.1:n.5-18436A>G
ENST00000591534.5:c.-43-7866A>G	ENSP00000467329.1:n.-43-7866A>G
ENST00000591849.5:c.-98-32197A>G	ENSP00000465347.1:n.-98-32197A>G
ENST00000621897.1:n.251+17A>G
NM_007294.3:c.4357+17A>G , LRG_292t1:c.4357+17A>G	NP_009225.1:n.4357+17A>G
NM_007297.3:c.4216+17A>G	NP_009228.2:n.4216+17A>G
NM_007298.3:c.1048+17A>G	NP_009229.2:n.1048+17A>G
NM_007299.3:c.1048+17A>G	NP_009230.2:n.1048+17A>G
NM_007300.3:c.4357+17A>G	NP_009231.2:n.4357+17A>G
NR_027676.1:n.4493+17A>G
NM_007294.4:c.4357+17A>G MANE Select	NP_009225.1:n.4357+17A>G
NM_007297.4:c.4216+17A>G	NP_009228.2:n.4216+17A>G
NM_007299.4:c.1048+17A>G	NP_009230.2:n.1048+17A>G
NM_007300.4:c.4357+17A>G	NP_009231.2:n.4357+17A>G
NR_027676.2:n.4534+17A>G