Canonical Allele Identifier: CA003299

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125786
• ClinVar RCV Id: RCV000112532 ; RCV002336244 ; RCV001253796 ; RCV003607239
• dbSNP Id: rs80358109
• gnomAD v4: 17-43063399-T-C
• MyVariant Identifiers: chr17:g.41215416T>C (hg19) ; chr17:g.43063399T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063399T>C , CM000679.2:g.43063399T>C	GRCh38
NC_000017.10:g.41215416T>C , CM000679.1:g.41215416T>C	GRCh37
NC_000017.9:g.38468942T>C	NCBI36
NG_005905.2:g.154585A>G , LRG_292:g.154585A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5150-26A>G	ENSP00000417241.2:n.5150-26A>G
ENST00000470026.6:c.5153-26A>G	ENSP00000419274.2:n.5153-26A>G
ENST00000473961.6:c.5027-26A>G	ENSP00000420201.2:n.5027-26A>G
ENST00000476777.6:c.5147-26A>G	ENSP00000417554.2:n.5147-26A>G
ENST00000477152.6:c.5075-26A>G	ENSP00000419988.2:n.5075-26A>G
ENST00000478531.6:c.1841-26A>G	ENSP00000420412.2:n.1841-26A>G
ENST00000489037.2:c.5075-26A>G	ENSP00000420781.2:n.5075-26A>G
ENST00000493919.6:c.1703-26A>G	ENSP00000418819.2:n.1703-26A>G
ENST00000494123.6:c.5153-26A>G	ENSP00000419103.2:n.5153-26A>G
ENST00000497488.2:c.4265-26A>G	ENSP00000418986.2:n.4265-26A>G
ENST00000618469.2:c.5153-26A>G	ENSP00000478114.2:n.5153-26A>G
ENST00000634433.2:c.5030-26A>G	ENSP00000489431.2:n.5030-26A>G
ENST00000644379.2:c.5219-26A>G	ENSP00000496570.2:n.5219-26A>G
ENST00000644555.2:c.1703-26A>G	ENSP00000494614.2:n.1703-26A>G
ENST00000652672.2:c.5012-26A>G	ENSP00000498906.2:n.5012-26A>G
ENST00000484087.6:c.1715-26A>G	ENSP00000419481.2:n.1715-26A>G
ENST00000357654.9:c.5153-26A>G MANE Select	ENSP00000350283.3:n.5153-26A>G
ENST00000471181.7:c.5216-26A>G	ENSP00000418960.2:n.5216-26A>G
ENST00000644379.1:c.1540-26A>G
ENST00000352993.7:c.1727-26A>G	ENSP00000312236.5:n.1727-26A>G
ENST00000357654.7:c.5153-26A>G	ENSP00000350283.3:n.5153-26A>G
ENST00000461221.5:c.*4936-26A>G	ENSP00000418548.1:n.*4936-26A>G
ENST00000468300.5:c.1841-26A>G	ENSP00000417148.1:n.1841-26A>G
ENST00000471181.6:c.5216-26A>G	ENSP00000418960.2:n.5216-26A>G
ENST00000478531.5:c.1841-26A>G	ENSP00000420412.1:n.1841-26A>G
ENST00000484087.5:c.1466-26A>G	ENSP00000419481.1:n.1466-26A>G
ENST00000491747.6:c.1841-26A>G	ENSP00000420705.2:n.1841-26A>G
ENST00000493795.5:c.5012-26A>G	ENSP00000418775.1:n.5012-26A>G
ENST00000493919.5:c.1703-26A>G	ENSP00000418819.1:n.1703-26A>G
ENST00000586385.5:c.83-26A>G	ENSP00000465818.1:n.83-26A>G
ENST00000591534.5:c.626-26A>G	ENSP00000467329.1:n.626-26A>G
ENST00000591849.5:c.-98-13209A>G	ENSP00000465347.1:n.-98-13209A>G
NM_007294.3:c.5153-26A>G , LRG_292t1:c.5153-26A>G	NP_009225.1:n.5153-26A>G
NM_007297.3:c.5012-26A>G	NP_009228.2:n.5012-26A>G
NM_007298.3:c.1841-26A>G	NP_009229.2:n.1841-26A>G
NM_007299.3:c.1841-26A>G	NP_009230.2:n.1841-26A>G
NM_007300.3:c.5216-26A>G	NP_009231.2:n.5216-26A>G
NR_027676.1:n.5289-26A>G
NM_007294.4:c.5153-26A>G MANE Select	NP_009225.1:n.5153-26A>G
NM_007297.4:c.5012-26A>G	NP_009228.2:n.5012-26A>G
NM_007299.4:c.1841-26A>G	NP_009230.2:n.1841-26A>G
NM_007300.4:c.5216-26A>G	NP_009231.2:n.5216-26A>G
NR_027676.2:n.5330-26A>G