Canonical Allele Identifier: CA003434

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55501
• ClinVar RCV Id: RCV000077612 ; RCV000129416 ; RCV000482206 ; RCV000496568 ; RCV003162419
• dbSNP Id: rs80358099
• gnomAD v3: 17-43051118-C-G
• gnomAD v4: 17-43051118-C-G
• MyVariant Identifiers: chr17:g.41203135C>G (hg19) ; chr17:g.43051118C>G (hg38)
• PubMed: PMID:11802208 ; PMID:12955716 ; PMID:16998791

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051118C>G , CM000679.2:g.43051118C>G	GRCh38
NC_000017.10:g.41203135C>G , CM000679.1:g.41203135C>G	GRCh37
NC_000017.9:g.38456661C>G	NCBI36
NG_005905.2:g.166866G>C , LRG_292:g.166866G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5275-1G>C	ENSP00000417241.2:n.5275-1G>C
ENST00000470026.6:c.5278-1G>C	ENSP00000419274.2:n.5278-1G>C
ENST00000473961.6:c.5152-1G>C	ENSP00000420201.2:n.5152-1G>C
ENST00000476777.6:c.5272-1G>C	ENSP00000417554.2:n.5272-1G>C
ENST00000477152.6:c.5200-1G>C	ENSP00000419988.2:n.5200-1G>C
ENST00000478531.6:c.1966-1G>C	ENSP00000420412.2:n.1966-1G>C
ENST00000489037.2:c.5200-1G>C	ENSP00000420781.2:n.5200-1G>C
ENST00000493919.6:c.1828-1G>C	ENSP00000418819.2:n.1828-1G>C
ENST00000494123.6:c.5278-1G>C	ENSP00000419103.2:n.5278-1G>C
ENST00000497488.2:c.4390-1G>C	ENSP00000418986.2:n.4390-1G>C
ENST00000618469.2:c.5278-1G>C	ENSP00000478114.2:n.5278-1G>C
ENST00000634433.2:c.5155-1G>C	ENSP00000489431.2:n.5155-1G>C
ENST00000644379.2:c.5344-1G>C	ENSP00000496570.2:n.5344-1G>C
ENST00000644555.2:c.1828-1G>C	ENSP00000494614.2:n.1828-1G>C
ENST00000652672.2:c.5137-1G>C	ENSP00000498906.2:n.5137-1G>C
ENST00000484087.6:c.1840-1G>C	ENSP00000419481.2:n.1840-1G>C
ENST00000357654.9:c.5278-1G>C MANE Select	ENSP00000350283.3:n.5278-1G>C
ENST00000471181.7:c.5341-1G>C	ENSP00000418960.2:n.5341-1G>C
ENST00000644379.1:c.1665-1G>C
ENST00000352993.7:c.1852-1G>C	ENSP00000312236.5:n.1852-1G>C
ENST00000357654.7:c.5278-1G>C	ENSP00000350283.3:n.5278-1G>C
ENST00000461221.5:c.*5061-1G>C	ENSP00000418548.1:n.*5061-1G>C
ENST00000468300.5:c.1966-1G>C	ENSP00000417148.1:n.1966-1G>C
ENST00000471181.6:c.5341-1G>C	ENSP00000418960.2:n.5341-1G>C
ENST00000491747.6:c.1966-1G>C	ENSP00000420705.2:n.1966-1G>C
ENST00000493795.5:c.5137-1G>C	ENSP00000418775.1:n.5137-1G>C
ENST00000586385.5:c.208-1G>C	ENSP00000465818.1:n.208-1G>C
ENST00000591534.5:c.751-1G>C	ENSP00000467329.1:n.751-1G>C
ENST00000591849.5:c.-98-928G>C	ENSP00000465347.1:n.-98-928G>C
NM_007294.3:c.5278-1G>C , LRG_292t1:c.5278-1G>C	NP_009225.1:n.5278-1G>C
NM_007297.3:c.5137-1G>C	NP_009228.2:n.5137-1G>C
NM_007298.3:c.1966-1G>C	NP_009229.2:n.1966-1G>C
NM_007299.3:c.1966-1G>C	NP_009230.2:n.1966-1G>C
NM_007300.3:c.5341-1G>C	NP_009231.2:n.5341-1G>C
NR_027676.1:n.5414-1G>C
NM_007294.4:c.5278-1G>C MANE Select	NP_009225.1:n.5278-1G>C
NM_007297.4:c.5137-1G>C	NP_009228.2:n.5137-1G>C
NM_007299.4:c.1966-1G>C	NP_009230.2:n.1966-1G>C
NM_007300.4:c.5341-1G>C	NP_009231.2:n.5341-1G>C
NR_027676.2:n.5455-1G>C