Canonical Allele Identifier: CA002874

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125714
• ClinVar RCV Id: RCV000112341 ; RCV000501845
• dbSNP Id: rs80358185
• gnomAD v3: 17-43076427-C-A
• gnomAD v4: 17-43076427-C-A
• MyVariant Identifiers: chr17:g.41228444C>A (hg19) ; chr17:g.43076427C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076427C>A , CM000679.2:g.43076427C>A	GRCh38
NC_000017.10:g.41228444C>A , CM000679.1:g.41228444C>A	GRCh37
NC_000017.9:g.38481970C>A	NCBI36
NG_005905.2:g.141557G>T , LRG_292:g.141557G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4481+61G>T	ENSP00000417241.2:n.4481+61G>T
ENST00000470026.6:c.4484+61G>T	ENSP00000419274.2:n.4484+61G>T
ENST00000473961.6:c.4358+61G>T	ENSP00000420201.2:n.4358+61G>T
ENST00000476777.6:c.4478+61G>T	ENSP00000417554.2:n.4478+61G>T
ENST00000477152.6:c.4406+61G>T	ENSP00000419988.2:n.4406+61G>T
ENST00000478531.6:c.1172+61G>T	ENSP00000420412.2:n.1172+61G>T
ENST00000489037.2:c.4406+61G>T	ENSP00000420781.2:n.4406+61G>T
ENST00000493919.6:c.1034+61G>T	ENSP00000418819.2:n.1034+61G>T
ENST00000494123.6:c.4484+61G>T	ENSP00000419103.2:n.4484+61G>T
ENST00000497488.2:c.3596+61G>T	ENSP00000418986.2:n.3596+61G>T
ENST00000618469.2:c.4484+61G>T	ENSP00000478114.2:n.4484+61G>T
ENST00000634433.2:c.4361+61G>T	ENSP00000489431.2:n.4361+61G>T
ENST00000644379.2:c.4550+61G>T	ENSP00000496570.2:n.4550+61G>T
ENST00000644555.2:c.1034+61G>T	ENSP00000494614.2:n.1034+61G>T
ENST00000652672.2:c.4343+61G>T	ENSP00000498906.2:n.4343+61G>T
ENST00000484087.6:c.1046+61G>T	ENSP00000419481.2:n.1046+61G>T
ENST00000700182.1:c.1091+61G>T	ENSP00000514849.1:n.1091+61G>T
ENST00000357654.9:c.4484+61G>T MANE Select	ENSP00000350283.3:n.4484+61G>T
ENST00000471181.7:c.4547+61G>T	ENSP00000418960.2:n.4547+61G>T
ENST00000644379.1:c.871+61G>T
ENST00000352993.7:c.1058+61G>T	ENSP00000312236.5:n.1058+61G>T
ENST00000357654.7:c.4484+61G>T	ENSP00000350283.3:n.4484+61G>T
ENST00000461221.5:c.*4267+61G>T	ENSP00000418548.1:n.*4267+61G>T
ENST00000468300.5:c.1172+61G>T	ENSP00000417148.1:n.1172+61G>T
ENST00000471181.6:c.4547+61G>T	ENSP00000418960.2:n.4547+61G>T
ENST00000478531.5:c.1172+61G>T	ENSP00000420412.1:n.1172+61G>T
ENST00000484087.5:c.797+61G>T	ENSP00000419481.1:n.797+61G>T
ENST00000491747.6:c.1172+61G>T	ENSP00000420705.2:n.1172+61G>T
ENST00000493795.5:c.4343+61G>T	ENSP00000418775.1:n.4343+61G>T
ENST00000493919.5:c.1034+61G>T	ENSP00000418819.1:n.1034+61G>T
ENST00000586385.5:c.5-12476G>T	ENSP00000465818.1:n.5-12476G>T
ENST00000591534.5:c.-43-1906G>T	ENSP00000467329.1:n.-43-1906G>T
ENST00000591849.5:c.-98-26237G>T	ENSP00000465347.1:n.-98-26237G>T
NM_007294.3:c.4484+61G>T , LRG_292t1:c.4484+61G>T	NP_009225.1:n.4484+61G>T
NM_007297.3:c.4343+61G>T	NP_009228.2:n.4343+61G>T
NM_007298.3:c.1172+61G>T	NP_009229.2:n.1172+61G>T
NM_007299.3:c.1172+61G>T	NP_009230.2:n.1172+61G>T
NM_007300.3:c.4547+61G>T	NP_009231.2:n.4547+61G>T
NR_027676.1:n.4620+61G>T
NM_007294.4:c.4484+61G>T MANE Select	NP_009225.1:n.4484+61G>T
NM_007297.4:c.4343+61G>T	NP_009228.2:n.4343+61G>T
NM_007299.4:c.1172+61G>T	NP_009230.2:n.1172+61G>T
NM_007300.4:c.4547+61G>T	NP_009231.2:n.4547+61G>T
NR_027676.2:n.4661+61G>T