Canonical Allele Identifier: CA003378

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 185702
• ClinVar RCV Id: RCV000165172 ; RCV002517619 ; RCV001075913
• dbSNP Id: rs786202389
• MyVariant Identifiers: chr17:g.41209108G>C (hg19) ; chr17:g.43057091G>C (hg38)
• PubMed: PMID:15235020 ; PMID:23867111

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057091G>C , CM000679.2:g.43057091G>C	GRCh38
NC_000017.10:g.41209108G>C , CM000679.1:g.41209108G>C	GRCh37
NC_000017.9:g.38462634G>C	NCBI36
NG_005905.2:g.160893C>G , LRG_292:g.160893C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5235C>G	ENSP00000417241.2:p.His1745Gln
ENST00000470026.6:c.5238C>G	ENSP00000419274.2:p.His1746Gln
ENST00000473961.6:c.5112C>G	ENSP00000420201.2:p.His1704Gln
ENST00000476777.6:c.5232C>G	ENSP00000417554.2:p.His1744Gln
ENST00000477152.6:c.5160C>G	ENSP00000419988.2:p.His1720Gln
ENST00000478531.6:c.1926C>G	ENSP00000420412.2:p.His642Gln
ENST00000489037.2:c.5160C>G	ENSP00000420781.2:p.His1720Gln
ENST00000493919.6:c.1788C>G	ENSP00000418819.2:p.His596Gln
ENST00000494123.6:c.5238C>G	ENSP00000419103.2:p.His1746Gln
ENST00000497488.2:c.4350C>G	ENSP00000418986.2:p.His1450Gln
ENST00000618469.2:c.5238C>G	ENSP00000478114.2:p.His1746Gln
ENST00000634433.2:c.5115C>G	ENSP00000489431.2:p.His1705Gln
ENST00000644379.2:c.5304C>G	ENSP00000496570.2:p.His1768Gln
ENST00000644555.2:c.1788C>G	ENSP00000494614.2:p.His596Gln
ENST00000652672.2:c.5097C>G	ENSP00000498906.2:p.His1699Gln
ENST00000484087.6:c.1800C>G	ENSP00000419481.2:p.His600Gln
ENST00000357654.9:c.5238C>G MANE Select	ENSP00000350283.3:p.His1746Gln
ENST00000471181.7:c.5301C>G	ENSP00000418960.2:p.His1767Gln
ENST00000644379.1:c.1625C>G
ENST00000352993.7:c.1812C>G	ENSP00000312236.5:p.His604Gln
ENST00000357654.7:c.5238C>G	ENSP00000350283.3:p.His1746Gln
ENST00000461221.5:c.*5021C>G	ENSP00000418548.1:n.*5021C>G
ENST00000468300.5:c.1926C>G	ENSP00000417148.1:p.His642Gln
ENST00000471181.6:c.5301C>G	ENSP00000418960.2:p.His1767Gln
ENST00000491747.6:c.1926C>G	ENSP00000420705.2:p.His642Gln
ENST00000493795.5:c.5097C>G	ENSP00000418775.1:p.His1699Gln
ENST00000586385.5:c.168C>G	ENSP00000465818.1:p.His56Gln
ENST00000591534.5:c.711C>G	ENSP00000467329.1:p.His237Gln
ENST00000591849.5:c.-98-6901C>G	ENSP00000465347.1:n.-98-6901C>G
NM_007294.3:c.5238C>G , LRG_292t1:c.5238C>G	NP_009225.1:p.His1746Gln
NM_007297.3:c.5097C>G	NP_009228.2:p.His1699Gln
NM_007298.3:c.1926C>G	NP_009229.2:p.His642Gln
NM_007299.3:c.1926C>G	NP_009230.2:p.His642Gln
NM_007300.3:c.5301C>G	NP_009231.2:p.His1767Gln
NR_027676.1:n.5374C>G
NM_007294.4:c.5238C>G MANE Select	NP_009225.1:p.His1746Gln
NM_007297.4:c.5097C>G	NP_009228.2:p.His1699Gln
NM_007299.4:c.1926C>G	NP_009230.2:p.His642Gln
NM_007300.4:c.5301C>G	NP_009231.2:p.His1767Gln
NR_027676.2:n.5415C>G