Canonical Allele Identifier: CA772175381

Gene: BRCA1

Linked Data

• dbSNP Id: rs1315066308
• gnomAD v4: 17-43076405-T-C
• MyVariant Identifiers: chr17:g.41228422T>C (hg19) ; chr17:g.43076405T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076405T>C , CM000679.2:g.43076405T>C	GRCh38
NC_000017.10:g.41228422T>C , CM000679.1:g.41228422T>C	GRCh37
NC_000017.9:g.38481948T>C	NCBI36
NG_005905.2:g.141579A>G , LRG_292:g.141579A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4481+83A>G	ENSP00000417241.2:n.4481+83A>G
ENST00000470026.6:c.4484+83A>G	ENSP00000419274.2:n.4484+83A>G
ENST00000473961.6:c.4358+83A>G	ENSP00000420201.2:n.4358+83A>G
ENST00000476777.6:c.4478+83A>G	ENSP00000417554.2:n.4478+83A>G
ENST00000477152.6:c.4406+83A>G	ENSP00000419988.2:n.4406+83A>G
ENST00000478531.6:c.1172+83A>G	ENSP00000420412.2:n.1172+83A>G
ENST00000489037.2:c.4406+83A>G	ENSP00000420781.2:n.4406+83A>G
ENST00000493919.6:c.1034+83A>G	ENSP00000418819.2:n.1034+83A>G
ENST00000494123.6:c.4484+83A>G	ENSP00000419103.2:n.4484+83A>G
ENST00000497488.2:c.3596+83A>G	ENSP00000418986.2:n.3596+83A>G
ENST00000618469.2:c.4484+83A>G	ENSP00000478114.2:n.4484+83A>G
ENST00000634433.2:c.4361+83A>G	ENSP00000489431.2:n.4361+83A>G
ENST00000644379.2:c.4550+83A>G	ENSP00000496570.2:n.4550+83A>G
ENST00000644555.2:c.1034+83A>G	ENSP00000494614.2:n.1034+83A>G
ENST00000652672.2:c.4343+83A>G	ENSP00000498906.2:n.4343+83A>G
ENST00000484087.6:c.1046+83A>G	ENSP00000419481.2:n.1046+83A>G
ENST00000700182.1:c.1091+83A>G	ENSP00000514849.1:n.1091+83A>G
ENST00000357654.9:c.4484+83A>G MANE Select	ENSP00000350283.3:n.4484+83A>G
ENST00000471181.7:c.4547+83A>G	ENSP00000418960.2:n.4547+83A>G
ENST00000644379.1:c.871+83A>G
ENST00000352993.7:c.1058+83A>G	ENSP00000312236.5:n.1058+83A>G
ENST00000357654.7:c.4484+83A>G	ENSP00000350283.3:n.4484+83A>G
ENST00000461221.5:c.*4267+83A>G	ENSP00000418548.1:n.*4267+83A>G
ENST00000468300.5:c.1172+83A>G	ENSP00000417148.1:n.1172+83A>G
ENST00000471181.6:c.4547+83A>G	ENSP00000418960.2:n.4547+83A>G
ENST00000478531.5:c.1172+83A>G	ENSP00000420412.1:n.1172+83A>G
ENST00000484087.5:c.797+83A>G	ENSP00000419481.1:n.797+83A>G
ENST00000491747.6:c.1172+83A>G	ENSP00000420705.2:n.1172+83A>G
ENST00000493795.5:c.4343+83A>G	ENSP00000418775.1:n.4343+83A>G
ENST00000493919.5:c.1034+83A>G	ENSP00000418819.1:n.1034+83A>G
ENST00000586385.5:c.5-12454A>G	ENSP00000465818.1:n.5-12454A>G
ENST00000591534.5:c.-43-1884A>G	ENSP00000467329.1:n.-43-1884A>G
ENST00000591849.5:c.-98-26215A>G	ENSP00000465347.1:n.-98-26215A>G
NM_007294.3:c.4484+83A>G , LRG_292t1:c.4484+83A>G	NP_009225.1:n.4484+83A>G
NM_007297.3:c.4343+83A>G	NP_009228.2:n.4343+83A>G
NM_007298.3:c.1172+83A>G	NP_009229.2:n.1172+83A>G
NM_007299.3:c.1172+83A>G	NP_009230.2:n.1172+83A>G
NM_007300.3:c.4547+83A>G	NP_009231.2:n.4547+83A>G
NR_027676.1:n.4620+83A>G
NM_007294.4:c.4484+83A>G MANE Select	NP_009225.1:n.4484+83A>G
NM_007297.4:c.4343+83A>G	NP_009228.2:n.4343+83A>G
NM_007299.4:c.1172+83A>G	NP_009230.2:n.1172+83A>G
NM_007300.4:c.4547+83A>G	NP_009231.2:n.4547+83A>G
NR_027676.2:n.4661+83A>G