Canonical Allele Identifier: CA003750

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55643
• ClinVar RCV Id: RCV000112748 ; RCV000237043 ; RCV000217340 ; RCV001297373
• dbSNP Id: rs80358154
• gnomAD v4: 17-43097240-T-C
• MyVariant Identifiers: chr17:g.41249257T>C (hg19) ; chr17:g.43097240T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43097240T>C , CM000679.2:g.43097240T>C	GRCh38
NC_000017.10:g.41249257T>C , CM000679.1:g.41249257T>C	GRCh37
NC_000017.9:g.38502783T>C	NCBI36
NG_005905.2:g.120744A>G , LRG_292:g.120744A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.657+4A>G
ENST00000461574.2:c.593+4A>G	ENSP00000417241.2:n.593+4A>G
ENST00000470026.6:c.593+4A>G	ENSP00000419274.2:n.593+4A>G
ENST00000473961.6:c.545-2380A>G	ENSP00000420201.2:n.545-2380A>G
ENST00000476777.6:c.590+4A>G	ENSP00000417554.2:n.590+4A>G
ENST00000477152.6:c.515+4A>G	ENSP00000419988.2:n.515+4A>G
ENST00000478531.6:c.590+4A>G	ENSP00000420412.2:n.590+4A>G
ENST00000489037.2:c.515+4A>G	ENSP00000420781.2:n.515+4A>G
ENST00000493919.6:c.452+4A>G	ENSP00000418819.2:n.452+4A>G
ENST00000494123.6:c.593+4A>G	ENSP00000419103.2:n.593+4A>G
ENST00000497488.2:c.-218-2380A>G	ENSP00000418986.2:n.-218-2380A>G
ENST00000618469.2:c.593+4A>G	ENSP00000478114.2:n.593+4A>G
ENST00000634433.2:c.548-2380A>G	ENSP00000489431.2:n.548-2380A>G
ENST00000644379.2:c.593+4A>G	ENSP00000496570.2:n.593+4A>G
ENST00000644555.2:c.452+4A>G	ENSP00000494614.2:n.452+4A>G
ENST00000652672.2:c.452+4A>G	ENSP00000498906.2:n.452+4A>G
ENST00000484087.6:c.548-2380A>G	ENSP00000419481.2:n.548-2380A>G
ENST00000700182.1:c.512+4A>G	ENSP00000514849.1:n.512+4A>G
ENST00000700183.1:c.*601+4A>G	ENSP00000514850.1:n.*601+4A>G
ENST00000357654.9:c.593+4A>G MANE Select	ENSP00000350283.3:n.593+4A>G
ENST00000471181.7:c.593+4A>G	ENSP00000418960.2:n.593+4A>G
ENST00000642945.1:c.*467+4A>G	ENSP00000495897.1:n.*467+4A>G
ENST00000652672.1:c.452+4A>G	ENSP00000498906.1:n.452+4A>G
ENST00000352993.7:c.593+4A>G	ENSP00000312236.5:n.593+4A>G
ENST00000354071.7:c.593+4A>G	ENSP00000326002.7:n.593+4A>G
ENST00000357654.7:c.593+4A>G	ENSP00000350283.3:n.593+4A>G
ENST00000461221.5:c.*376+4A>G	ENSP00000418548.1:n.*376+4A>G
ENST00000468300.5:c.593+4A>G	ENSP00000417148.1:n.593+4A>G
ENST00000470026.5:c.593+4A>G	ENSP00000419274.1:n.593+4A>G
ENST00000471181.6:c.593+4A>G	ENSP00000418960.2:n.593+4A>G
ENST00000473961.5:c.268-2380A>G
ENST00000476777.5:c.590+4A>G	ENSP00000417554.1:n.590+4A>G
ENST00000477152.5:c.515+4A>G	ENSP00000419988.1:n.515+4A>G
ENST00000478531.5:c.590+4A>G	ENSP00000420412.1:n.590+4A>G
ENST00000484087.5:c.293-2380A>G	ENSP00000419481.1:n.293-2380A>G
ENST00000487825.5:c.296-2380A>G	ENSP00000418212.1:n.296-2380A>G
ENST00000491747.6:c.593+4A>G	ENSP00000420705.2:n.593+4A>G
ENST00000492859.5:c.*529+4A>G	ENSP00000420253.1:n.*529+4A>G
ENST00000493795.5:c.452+4A>G	ENSP00000418775.1:n.452+4A>G
ENST00000493919.5:c.452+4A>G	ENSP00000418819.1:n.452+4A>G
ENST00000494123.5:c.593+4A>G	ENSP00000419103.1:n.593+4A>G
ENST00000497488.1:c.-218-2380A>G	ENSP00000418986.1:n.-218-2380A>G
ENST00000586385.5:c.4+27942A>G	ENSP00000465818.1:n.4+27942A>G
ENST00000591534.5:c.-43-22719A>G	ENSP00000467329.1:n.-43-22719A>G
ENST00000591849.5:c.-99+28031A>G	ENSP00000465347.1:n.-99+28031A>G
ENST00000634433.1:c.548-2380A>G	ENSP00000489431.1:n.548-2380A>G
NM_007294.3:c.593+4A>G , LRG_292t1:c.593+4A>G	NP_009225.1:n.593+4A>G
NM_007297.3:c.452+4A>G	NP_009228.2:n.452+4A>G
NM_007298.3:c.593+4A>G	NP_009229.2:n.593+4A>G
NM_007299.3:c.593+4A>G	NP_009230.2:n.593+4A>G
NM_007300.3:c.593+4A>G	NP_009231.2:n.593+4A>G
NR_027676.1:n.729+4A>G
NM_007294.4:c.593+4A>G MANE Select	NP_009225.1:n.593+4A>G
NM_007297.4:c.452+4A>G	NP_009228.2:n.452+4A>G
NM_007299.4:c.593+4A>G	NP_009230.2:n.593+4A>G
NM_007300.4:c.593+4A>G	NP_009231.2:n.593+4A>G
NR_027676.2:n.770+4A>G