Canonical Allele Identifier: CA003300

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 185900
• ClinVar RCV Id: RCV000165403 ; RCV000258356 ; RCV000464976
• dbSNP Id: rs786202545
• gnomAD v4: 17-43063375-T-C
• MyVariant Identifiers: chr17:g.41215392T>C (hg19) ; chr17:g.43063375T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063375T>C , CM000679.2:g.43063375T>C	GRCh38
NC_000017.10:g.41215392T>C , CM000679.1:g.41215392T>C	GRCh37
NC_000017.9:g.38468918T>C	NCBI36
NG_005905.2:g.154609A>G , LRG_292:g.154609A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5150-2A>G	ENSP00000417241.2:n.5150-2A>G
ENST00000470026.6:c.5153-2A>G	ENSP00000419274.2:n.5153-2A>G
ENST00000473961.6:c.5027-2A>G	ENSP00000420201.2:n.5027-2A>G
ENST00000476777.6:c.5147-2A>G	ENSP00000417554.2:n.5147-2A>G
ENST00000477152.6:c.5075-2A>G	ENSP00000419988.2:n.5075-2A>G
ENST00000478531.6:c.1841-2A>G	ENSP00000420412.2:n.1841-2A>G
ENST00000489037.2:c.5075-2A>G	ENSP00000420781.2:n.5075-2A>G
ENST00000493919.6:c.1703-2A>G	ENSP00000418819.2:n.1703-2A>G
ENST00000494123.6:c.5153-2A>G	ENSP00000419103.2:n.5153-2A>G
ENST00000497488.2:c.4265-2A>G	ENSP00000418986.2:n.4265-2A>G
ENST00000618469.2:c.5153-2A>G	ENSP00000478114.2:n.5153-2A>G
ENST00000634433.2:c.5030-2A>G	ENSP00000489431.2:n.5030-2A>G
ENST00000644379.2:c.5219-2A>G	ENSP00000496570.2:n.5219-2A>G
ENST00000644555.2:c.1703-2A>G	ENSP00000494614.2:n.1703-2A>G
ENST00000652672.2:c.5012-2A>G	ENSP00000498906.2:n.5012-2A>G
ENST00000484087.6:c.1715-2A>G	ENSP00000419481.2:n.1715-2A>G
ENST00000357654.9:c.5153-2A>G MANE Select	ENSP00000350283.3:n.5153-2A>G
ENST00000471181.7:c.5216-2A>G	ENSP00000418960.2:n.5216-2A>G
ENST00000644379.1:c.1540-2A>G
ENST00000352993.7:c.1727-2A>G	ENSP00000312236.5:n.1727-2A>G
ENST00000357654.7:c.5153-2A>G	ENSP00000350283.3:n.5153-2A>G
ENST00000461221.5:c.*4936-2A>G	ENSP00000418548.1:n.*4936-2A>G
ENST00000468300.5:c.1841-2A>G	ENSP00000417148.1:n.1841-2A>G
ENST00000471181.6:c.5216-2A>G	ENSP00000418960.2:n.5216-2A>G
ENST00000478531.5:c.1841-2A>G	ENSP00000420412.1:n.1841-2A>G
ENST00000484087.5:c.1466-2A>G	ENSP00000419481.1:n.1466-2A>G
ENST00000491747.6:c.1841-2A>G	ENSP00000420705.2:n.1841-2A>G
ENST00000493795.5:c.5012-2A>G	ENSP00000418775.1:n.5012-2A>G
ENST00000493919.5:c.1703-2A>G	ENSP00000418819.1:n.1703-2A>G
ENST00000586385.5:c.83-2A>G	ENSP00000465818.1:n.83-2A>G
ENST00000591534.5:c.626-2A>G	ENSP00000467329.1:n.626-2A>G
ENST00000591849.5:c.-98-13185A>G	ENSP00000465347.1:n.-98-13185A>G
NM_007294.3:c.5153-2A>G , LRG_292t1:c.5153-2A>G	NP_009225.1:n.5153-2A>G
NM_007297.3:c.5012-2A>G	NP_009228.2:n.5012-2A>G
NM_007298.3:c.1841-2A>G	NP_009229.2:n.1841-2A>G
NM_007299.3:c.1841-2A>G	NP_009230.2:n.1841-2A>G
NM_007300.3:c.5216-2A>G	NP_009231.2:n.5216-2A>G
NR_027676.1:n.5289-2A>G
NM_007294.4:c.5153-2A>G MANE Select	NP_009225.1:n.5153-2A>G
NM_007297.4:c.5012-2A>G	NP_009228.2:n.5012-2A>G
NM_007299.4:c.1841-2A>G	NP_009230.2:n.1841-2A>G
NM_007300.4:c.5216-2A>G	NP_009231.2:n.5216-2A>G
NR_027676.2:n.5330-2A>G