Canonical Allele Identifier: CA10595789
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1398452
ClinVar RCV Id: RCV001915064 RCV003156826
dbSNP Id: rs2154342594
gnomAD v4: 17-43092431-T-C
MyVariant Identifiers: chr17:g.41244448T>C (hg19) chr17:g.43092431T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092431T>C , CM000679.2:g.43092431T>C GRCh38
NC_000017.10:g.41244448T>C , CM000679.1:g.41244448T>C GRCh37
NC_000017.9:g.38497974T>C NCBI36
NG_005905.2:g.125553A>G , LRG_292:g.125553A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3164A>G
ENST00000461574.2:c.3100A>G ENSP00000417241.2:p.Asn1034Asp
ENST00000470026.6:c.3100A>G ENSP00000419274.2:p.Asn1034Asp
ENST00000473961.6:c.2974A>G ENSP00000420201.2:p.Asn992Asp
ENST00000476777.6:c.3097A>G ENSP00000417554.2:p.Asn1033Asp
ENST00000477152.6:c.3022A>G ENSP00000419988.2:p.Asn1008Asp
ENST00000478531.6:c.785-1399A>G ENSP00000420412.2:n.785-1399A>G
ENST00000489037.2:c.3022A>G ENSP00000420781.2:p.Asn1008Asp
ENST00000493919.6:c.647-1399A>G ENSP00000418819.2:n.647-1399A>G
ENST00000494123.6:c.3100A>G ENSP00000419103.2:p.Asn1034Asp
ENST00000497488.2:c.2212A>G ENSP00000418986.2:p.Asn738Asp
ENST00000618469.2:c.3100A>G ENSP00000478114.2:p.Asn1034Asp
ENST00000634433.2:c.2977A>G ENSP00000489431.2:p.Asn993Asp
ENST00000644379.2:c.3100A>G ENSP00000496570.2:p.Asn1034Asp
ENST00000644555.2:c.647-1399A>G ENSP00000494614.2:n.647-1399A>G
ENST00000652672.2:c.2959A>G ENSP00000498906.2:p.Asn987Asp
ENST00000484087.6:c.665-1399A>G ENSP00000419481.2:n.665-1399A>G
ENST00000700182.1:c.707-1399A>G ENSP00000514849.1:n.707-1399A>G
ENST00000357654.9:c.3100A>G MANE Select ENSP00000350283.3:p.Asn1034Asp
ENST00000471181.7:c.3100A>G ENSP00000418960.2:p.Asn1034Asp
ENST00000352993.7:c.671-1399A>G ENSP00000312236.5:n.671-1399A>G
ENST00000354071.7:c.3100A>G ENSP00000326002.7:p.Asn1034Asp
ENST00000357654.7:c.3100A>G ENSP00000350283.3:p.Asn1034Asp
ENST00000461221.5:c.*2883A>G ENSP00000418548.1:n.*2883A>G
ENST00000468300.5:c.788-1399A>G ENSP00000417148.1:n.788-1399A>G
ENST00000471181.6:c.3100A>G ENSP00000418960.2:p.Asn1034Asp
ENST00000478531.5:c.785-1399A>G ENSP00000420412.1:n.785-1399A>G
ENST00000484087.5:c.410-1399A>G ENSP00000419481.1:n.410-1399A>G
ENST00000487825.5:c.413-1399A>G ENSP00000418212.1:n.413-1399A>G
ENST00000491747.6:c.788-1399A>G ENSP00000420705.2:n.788-1399A>G
ENST00000493795.5:c.2959A>G ENSP00000418775.1:p.Asn987Asp
ENST00000493919.5:c.647-1399A>G ENSP00000418819.1:n.647-1399A>G
ENST00000586385.5:c.5-28480A>G ENSP00000465818.1:n.5-28480A>G
ENST00000591534.5:c.-43-17910A>G ENSP00000467329.1:n.-43-17910A>G
ENST00000591849.5:c.-99+32840A>G ENSP00000465347.1:n.-99+32840A>G
NM_007294.3:c.3100A>G , LRG_292t1:c.3100A>G NP_009225.1:p.Asn1034Asp
NM_007297.3:c.2959A>G NP_009228.2:p.Asn987Asp
NM_007298.3:c.788-1399A>G NP_009229.2:n.788-1399A>G
NM_007299.3:c.788-1399A>G NP_009230.2:n.788-1399A>G
NM_007300.3:c.3100A>G NP_009231.2:p.Asn1034Asp
NR_027676.1:n.3236A>G
NM_007294.4:c.3100A>G MANE Select NP_009225.1:p.Asn1034Asp
NM_007297.4:c.2959A>G NP_009228.2:p.Asn987Asp
NM_007299.4:c.788-1399A>G NP_009230.2:n.788-1399A>G
NM_007300.4:c.3100A>G NP_009231.2:p.Asn1034Asp
NR_027676.2:n.3277A>G
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