Canonical Allele Identifier: CA10649335

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 323420
• ClinVar RCV Id: RCV001072178 ; RCV001394087
• dbSNP Id: rs886052974
• gnomAD v4: 17-43047629-T-C
• MyVariant Identifiers: chr17:g.41199646T>C (hg19) ; chr17:g.43047629T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047629T>C , CM000679.2:g.43047629T>C	GRCh38
NC_000017.10:g.41199646T>C , CM000679.1:g.41199646T>C	GRCh37
NC_000017.9:g.38453172T>C	NCBI36
NG_005905.2:g.170355A>G , LRG_292:g.170355A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5464+14A>G	ENSP00000417241.2:n.5464+14A>G
ENST00000470026.6:c.5467+14A>G	ENSP00000419274.2:n.5467+14A>G
ENST00000473961.6:c.5341+14A>G	ENSP00000420201.2:n.5341+14A>G
ENST00000476777.6:c.5461+14A>G	ENSP00000417554.2:n.5461+14A>G
ENST00000477152.6:c.5389+14A>G	ENSP00000419988.2:n.5389+14A>G
ENST00000478531.6:c.2155+14A>G	ENSP00000420412.2:n.2155+14A>G
ENST00000489037.2:c.5389+14A>G	ENSP00000420781.2:n.5389+14A>G
ENST00000493919.6:c.2017+14A>G	ENSP00000418819.2:n.2017+14A>G
ENST00000494123.6:c.5467+14A>G	ENSP00000419103.2:n.5467+14A>G
ENST00000497488.2:c.4579+14A>G	ENSP00000418986.2:n.4579+14A>G
ENST00000618469.2:c.5467+14A>G	ENSP00000478114.2:n.5467+14A>G
ENST00000634433.2:c.5344+14A>G	ENSP00000489431.2:n.5344+14A>G
ENST00000644379.2:c.5533+14A>G	ENSP00000496570.2:n.5533+14A>G
ENST00000644555.2:c.2017+14A>G	ENSP00000494614.2:n.2017+14A>G
ENST00000652672.2:c.5326+14A>G	ENSP00000498906.2:n.5326+14A>G
ENST00000484087.6:c.2029+14A>G	ENSP00000419481.2:n.2029+14A>G
ENST00000700081.1:n.1350+14A>G
ENST00000700082.1:n.831+14A>G
ENST00000357654.9:c.5467+14A>G MANE Select	ENSP00000350283.3:n.5467+14A>G
ENST00000471181.7:c.5530+14A>G	ENSP00000418960.2:n.5530+14A>G
ENST00000644379.1:c.1854+14A>G
ENST00000352993.7:c.2041+14A>G	ENSP00000312236.5:n.2041+14A>G
ENST00000357654.7:c.5467+14A>G	ENSP00000350283.3:n.5467+14A>G
ENST00000461221.5:c.*5250+14A>G	ENSP00000418548.1:n.*5250+14A>G
ENST00000468300.5:c.2081+14A>G	ENSP00000417148.1:n.2081+14A>G
ENST00000471181.6:c.5530+14A>G	ENSP00000418960.2:n.5530+14A>G
ENST00000491747.6:c.2155+14A>G	ENSP00000420705.2:n.2155+14A>G
ENST00000493795.5:c.5326+14A>G	ENSP00000418775.1:n.5326+14A>G
ENST00000586385.5:c.397+14A>G	ENSP00000465818.1:n.397+14A>G
ENST00000591534.5:c.940+14A>G	ENSP00000467329.1:n.940+14A>G
ENST00000591849.5:c.166+14A>G	ENSP00000465347.1:n.166+14A>G
NM_007294.3:c.5467+14A>G , LRG_292t1:c.5467+14A>G	NP_009225.1:n.5467+14A>G
NM_007297.3:c.5326+14A>G	NP_009228.2:n.5326+14A>G
NM_007298.3:c.2155+14A>G	NP_009229.2:n.2155+14A>G
NM_007299.3:c.2081+14A>G	NP_009230.2:n.2081+14A>G
NM_007300.3:c.5530+14A>G	NP_009231.2:n.5530+14A>G
NR_027676.1:n.5603+14A>G
NM_007294.4:c.5467+14A>G MANE Select	NP_009225.1:n.5467+14A>G
NM_007297.4:c.5326+14A>G	NP_009228.2:n.5326+14A>G
NM_007299.4:c.2081+14A>G	NP_009230.2:n.2081+14A>G
NM_007300.4:c.5530+14A>G	NP_009231.2:n.5530+14A>G
NR_027676.2:n.5644+14A>G