Canonical Allele Identifier: CA000874

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 142873
• ClinVar RCV Id: RCV000132330 ; RCV000471324
• dbSNP Id: rs587782784
• gnomAD v4: 17-43094192-C-T
• MyVariant Identifiers: chr17:g.41246209C>T (hg19) ; chr17:g.43094192C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094192C>T , CM000679.2:g.43094192C>T	GRCh38
NC_000017.10:g.41246209C>T , CM000679.1:g.41246209C>T	GRCh37
NC_000017.9:g.38499735C>T	NCBI36
NG_005905.2:g.123792G>A , LRG_292:g.123792G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1403G>A
ENST00000461574.2:c.1339G>A	ENSP00000417241.2:p.Val447Ile
ENST00000470026.6:c.1339G>A	ENSP00000419274.2:p.Val447Ile
ENST00000473961.6:c.1213G>A	ENSP00000420201.2:p.Val405Ile
ENST00000476777.6:c.1336G>A	ENSP00000417554.2:p.Val446Ile
ENST00000477152.6:c.1261G>A	ENSP00000419988.2:p.Val421Ile
ENST00000478531.6:c.784+552G>A	ENSP00000420412.2:n.784+552G>A
ENST00000489037.2:c.1261G>A	ENSP00000420781.2:p.Val421Ile
ENST00000493919.6:c.646+552G>A	ENSP00000418819.2:n.646+552G>A
ENST00000494123.6:c.1339G>A	ENSP00000419103.2:p.Val447Ile
ENST00000497488.2:c.451G>A	ENSP00000418986.2:p.Val151Ile
ENST00000618469.2:c.1339G>A	ENSP00000478114.2:p.Val447Ile
ENST00000634433.2:c.1216G>A	ENSP00000489431.2:p.Val406Ile
ENST00000644379.2:c.1339G>A	ENSP00000496570.2:p.Val447Ile
ENST00000644555.2:c.646+552G>A	ENSP00000494614.2:n.646+552G>A
ENST00000652672.2:c.1198G>A	ENSP00000498906.2:p.Val400Ile
ENST00000484087.6:c.664+552G>A	ENSP00000419481.2:n.664+552G>A
ENST00000700182.1:c.706+552G>A	ENSP00000514849.1:n.706+552G>A
ENST00000700183.1:c.*1347G>A	ENSP00000514850.1:n.*1347G>A
ENST00000357654.9:c.1339G>A MANE Select	ENSP00000350283.3:p.Val447Ile
ENST00000471181.7:c.1339G>A	ENSP00000418960.2:p.Val447Ile
ENST00000652672.1:c.1198G>A	ENSP00000498906.1:p.Val400Ile
ENST00000352993.7:c.670+1654G>A	ENSP00000312236.5:n.670+1654G>A
ENST00000354071.7:c.1339G>A	ENSP00000326002.7:p.Val447Ile
ENST00000357654.7:c.1339G>A	ENSP00000350283.3:p.Val447Ile
ENST00000412061.3:c.690G>A
ENST00000461221.5:c.*1122G>A	ENSP00000418548.1:n.*1122G>A
ENST00000468300.5:c.787+552G>A	ENSP00000417148.1:n.787+552G>A
ENST00000470026.5:c.1339G>A	ENSP00000419274.1:p.Val447Ile
ENST00000471181.6:c.1339G>A	ENSP00000418960.2:p.Val447Ile
ENST00000473961.5:c.936G>A
ENST00000477152.5:c.1261G>A	ENSP00000419988.1:p.Val421Ile
ENST00000478531.5:c.784+552G>A	ENSP00000420412.1:n.784+552G>A
ENST00000484087.5:c.409+552G>A	ENSP00000419481.1:n.409+552G>A
ENST00000487825.5:c.412+552G>A	ENSP00000418212.1:n.412+552G>A
ENST00000491747.6:c.787+552G>A	ENSP00000420705.2:n.787+552G>A
ENST00000492859.5:c.*1275G>A	ENSP00000420253.1:n.*1275G>A
ENST00000493795.5:c.1198G>A	ENSP00000418775.1:p.Val400Ile
ENST00000493919.5:c.646+552G>A	ENSP00000418819.1:n.646+552G>A
ENST00000494123.5:c.1339G>A	ENSP00000419103.1:p.Val447Ile
ENST00000497488.1:c.451G>A	ENSP00000418986.1:p.Val151Ile
ENST00000586385.5:c.5-30241G>A	ENSP00000465818.1:n.5-30241G>A
ENST00000591534.5:c.-43-19671G>A	ENSP00000467329.1:n.-43-19671G>A
ENST00000591849.5:c.-99+31079G>A	ENSP00000465347.1:n.-99+31079G>A
ENST00000634433.1:c.1216G>A	ENSP00000489431.1:p.Val406Ile
NM_007294.3:c.1339G>A , LRG_292t1:c.1339G>A	NP_009225.1:p.Val447Ile
NM_007297.3:c.1198G>A	NP_009228.2:p.Val400Ile
NM_007298.3:c.787+552G>A	NP_009229.2:n.787+552G>A
NM_007299.3:c.787+552G>A	NP_009230.2:n.787+552G>A
NM_007300.3:c.1339G>A	NP_009231.2:p.Val447Ile
NR_027676.1:n.1475G>A
NM_007294.4:c.1339G>A MANE Select	NP_009225.1:p.Val447Ile
NM_007297.4:c.1198G>A	NP_009228.2:p.Val400Ile
NM_007299.4:c.787+552G>A	NP_009230.2:n.787+552G>A
NM_007300.4:c.1339G>A	NP_009231.2:p.Val447Ile
NR_027676.2:n.1516G>A