Canonical Allele Identifier: CA10649333

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 323418
• ClinVar RCV Id: RCV000317533 ; RCV001820968
• dbSNP Id: rs886052972
• gnomAD v2: 17-41197230-C-T
• gnomAD v3: 17-43045213-C-T
• gnomAD v4: 17-43045213-C-T
• MyVariant Identifiers: chr17:g.41197230C>T (hg19) ; chr17:g.43045213C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045213C>T , CM000679.2:g.43045213C>T	GRCh38
NC_000017.10:g.41197230C>T , CM000679.1:g.41197230C>T	GRCh37
NC_000017.9:g.38450756C>T	NCBI36
NG_005905.2:g.172771G>A , LRG_292:g.172771G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.*465G>A	ENSP00000417241.2:n.*465G>A
ENST00000470026.6:c.*465G>A	ENSP00000419274.2:n.*465G>A
ENST00000473961.6:c.*465G>A	ENSP00000420201.2:n.*465G>A
ENST00000476777.6:c.*465G>A	ENSP00000417554.2:n.*465G>A
ENST00000477152.6:c.*465G>A	ENSP00000419988.2:n.*465G>A
ENST00000478531.6:c.*465G>A	ENSP00000420412.2:n.*465G>A
ENST00000489037.2:c.*465G>A	ENSP00000420781.2:n.*465G>A
ENST00000493919.6:c.*465G>A	ENSP00000418819.2:n.*465G>A
ENST00000494123.6:c.*465G>A	ENSP00000419103.2:n.*465G>A
ENST00000497488.2:c.*465G>A	ENSP00000418986.2:n.*465G>A
ENST00000618469.2:c.*465G>A	ENSP00000478114.2:n.*465G>A
ENST00000634433.2:c.*465G>A	ENSP00000489431.2:n.*465G>A
ENST00000644379.2:c.*465G>A	ENSP00000496570.2:n.*465G>A
ENST00000644555.2:c.*465G>A	ENSP00000494614.2:n.*465G>A
ENST00000652672.2:c.*465G>A	ENSP00000498906.2:n.*465G>A
ENST00000700081.1:n.1940G>A
ENST00000700082.1:n.1421G>A
ENST00000357654.9:c.*465G>A MANE Select	ENSP00000350283.3:n.*465G>A
ENST00000471181.7:c.*465G>A	ENSP00000418960.2:n.*465G>A
ENST00000644379.1:c.2444G>A
ENST00000352993.7:c.*465G>A	ENSP00000312236.5:n.*465G>A
ENST00000357654.7:c.*465G>A	ENSP00000350283.3:n.*465G>A
ENST00000468300.5:c.*571G>A	ENSP00000417148.1:n.*571G>A
NM_007294.3:c.*465G>A , LRG_292t1:c.*465G>A	NP_009225.1:n.*465G>A
NM_007297.3:c.*465G>A	NP_009228.2:n.*465G>A
NM_007298.3:c.*465G>A	NP_009229.2:n.*465G>A
NM_007299.3:c.*571G>A	NP_009230.2:n.*571G>A
NM_007300.3:c.*465G>A	NP_009231.2:n.*465G>A
NR_027676.1:n.6193G>A
NM_007294.4:c.*465G>A MANE Select	NP_009225.1:n.*465G>A
NM_007297.4:c.*465G>A	NP_009228.2:n.*465G>A
NM_007299.4:c.*571G>A	NP_009230.2:n.*571G>A
NM_007300.4:c.*465G>A	NP_009231.2:n.*465G>A
NR_027676.2:n.6234G>A