Canonical Allele Identifier: CA10590634
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 867378
ClinVar RCV Id: RCV001076055
dbSNP Id: rs397509281

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047696T>C , CM000679.2:g.43047696T>C GRCh38
NC_000017.10:g.41199713T>C , CM000679.1:g.41199713T>C GRCh37
NC_000017.9:g.38453239T>C NCBI36
NG_005905.2:g.170288A>G , LRG_292:g.170288A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5411A>G ENSP00000417241.2:p.His1804Arg
ENST00000470026.6:c.5414A>G ENSP00000419274.2:p.His1805Arg
ENST00000473961.6:c.5288A>G ENSP00000420201.2:p.His1763Arg
ENST00000476777.6:c.5408A>G ENSP00000417554.2:p.His1803Arg
ENST00000477152.6:c.5336A>G ENSP00000419988.2:p.His1779Arg
ENST00000478531.6:c.2102A>G ENSP00000420412.2:p.His701Arg
ENST00000489037.2:c.5336A>G ENSP00000420781.2:p.His1779Arg
ENST00000493919.6:c.1964A>G ENSP00000418819.2:p.His655Arg
ENST00000494123.6:c.5414A>G ENSP00000419103.2:p.His1805Arg
ENST00000497488.2:c.4526A>G ENSP00000418986.2:p.His1509Arg
ENST00000618469.2:c.5414A>G ENSP00000478114.2:p.His1805Arg
ENST00000634433.2:c.5291A>G ENSP00000489431.2:p.His1764Arg
ENST00000644379.2:c.5480A>G ENSP00000496570.2:p.His1827Arg
ENST00000644555.2:c.1964A>G ENSP00000494614.2:p.His655Arg
ENST00000652672.2:c.5273A>G ENSP00000498906.2:p.His1758Arg
ENST00000484087.6:c.1976A>G ENSP00000419481.2:p.His659Arg
ENST00000700081.1:n.1297A>G
ENST00000700082.1:n.778A>G
ENST00000357654.9:c.5414A>G MANE Select ENSP00000350283.3:p.His1805Arg
ENST00000471181.7:c.5477A>G ENSP00000418960.2:p.His1826Arg
ENST00000644379.1:c.1801A>G
ENST00000352993.7:c.1988A>G ENSP00000312236.5:p.His663Arg
ENST00000357654.7:c.5414A>G ENSP00000350283.3:p.His1805Arg
ENST00000461221.5:c.*5197A>G ENSP00000418548.1:n.*5197A>G
ENST00000468300.5:c.2028A>G ENSP00000417148.1:p.Pro676=
ENST00000471181.6:c.5477A>G ENSP00000418960.2:p.His1826Arg
ENST00000491747.6:c.2102A>G ENSP00000420705.2:p.His701Arg
ENST00000493795.5:c.5273A>G ENSP00000418775.1:p.His1758Arg
ENST00000586385.5:c.344A>G ENSP00000465818.1:p.His115Arg
ENST00000591534.5:c.887A>G ENSP00000467329.1:p.His296Arg
ENST00000591849.5:c.113A>G ENSP00000465347.1:p.His38Arg
NM_007294.3:c.5414A>G , LRG_292t1:c.5414A>G NP_009225.1:p.His1805Arg
NM_007297.3:c.5273A>G NP_009228.2:p.His1758Arg
NM_007298.3:c.2102A>G NP_009229.2:p.His701Arg
NM_007299.3:c.2028A>G NP_009230.2:p.Pro676=
NM_007300.3:c.5477A>G NP_009231.2:p.His1826Arg
NR_027676.1:n.5550A>G
NM_007294.4:c.5414A>G MANE Select NP_009225.1:p.His1805Arg
NM_007297.4:c.5273A>G NP_009228.2:p.His1758Arg
NM_007299.4:c.2028A>G NP_009230.2:p.Pro676=
NM_007300.4:c.5477A>G NP_009231.2:p.His1826Arg
NR_027676.2:n.5591A>G