Canonical Allele Identifier: CA003676

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55604
• ClinVar RCV Id: RCV000049023 ; RCV000112685 ; RCV000120265 ; RCV000130437 ; RCV000240743 ; RCV000588102
• dbSNP Id: rs273902776
• ExAC: 17:41197783 C / T
• gnomAD v2: 17-41197783-C-T
• gnomAD v3: 17-43045766-C-T
• gnomAD v4: 17-43045766-C-T
• MyVariant Identifiers: chr17:g.41197783C>T (hg19) ; chr17:g.43045766C>T (hg38)
• PubMed: PMID:10923033 ; PMID:17972177 ; PMID:18627636 ; PMID:21447777 ; PMID:24504028 ; PMID:24728327 ; PMID:24845084 ; PMID:26689913 ; PMID:27257965 ; PMID:27403073

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045766C>T , CM000679.2:g.43045766C>T	GRCh38
NC_000017.10:g.41197783C>T , CM000679.1:g.41197783C>T	GRCh37
NC_000017.9:g.38451309C>T	NCBI36
NG_005905.2:g.172218G>A , LRG_292:g.172218G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5501G>A	ENSP00000417241.2:p.Arg1834Gln
ENST00000470026.6:c.5504G>A	ENSP00000419274.2:p.Arg1835Gln
ENST00000473961.6:c.5378G>A	ENSP00000420201.2:p.Arg1793Gln
ENST00000476777.6:c.5498G>A	ENSP00000417554.2:p.Arg1833Gln
ENST00000477152.6:c.5426G>A	ENSP00000419988.2:p.Arg1809Gln
ENST00000478531.6:c.2192G>A	ENSP00000420412.2:p.Arg731Gln
ENST00000489037.2:c.5426G>A	ENSP00000420781.2:p.Arg1809Gln
ENST00000493919.6:c.2054G>A	ENSP00000418819.2:p.Arg685Gln
ENST00000494123.6:c.5504G>A	ENSP00000419103.2:p.Arg1835Gln
ENST00000497488.2:c.4616G>A	ENSP00000418986.2:p.Arg1539Gln
ENST00000618469.2:c.5504G>A	ENSP00000478114.2:p.Arg1835Gln
ENST00000634433.2:c.5381G>A	ENSP00000489431.2:p.Arg1794Gln
ENST00000644379.2:c.5570G>A	ENSP00000496570.2:p.Arg1857Gln
ENST00000644555.2:c.2054G>A	ENSP00000494614.2:p.Arg685Gln
ENST00000652672.2:c.5363G>A	ENSP00000498906.2:p.Arg1788Gln
ENST00000484087.6:c.2066G>A	ENSP00000419481.2:p.Arg689Gln
ENST00000700081.1:n.1387G>A
ENST00000700082.1:n.868G>A
ENST00000357654.9:c.5504G>A MANE Select	ENSP00000350283.3:p.Arg1835Gln
ENST00000471181.7:c.5567G>A	ENSP00000418960.2:p.Arg1856Gln
ENST00000644379.1:c.1891G>A
ENST00000352993.7:c.2078G>A	ENSP00000312236.5:p.Arg693Gln
ENST00000357654.7:c.5504G>A	ENSP00000350283.3:p.Arg1835Gln
ENST00000461221.5:c.*5287G>A	ENSP00000418548.1:n.*5287G>A
ENST00000468300.5:c.*18G>A	ENSP00000417148.1:n.*18G>A
ENST00000471181.6:c.5567G>A	ENSP00000418960.2:p.Arg1856Gln
ENST00000491747.6:c.2192G>A	ENSP00000420705.2:p.Arg731Gln
ENST00000493795.5:c.5363G>A	ENSP00000418775.1:p.Arg1788Gln
ENST00000586385.5:c.434G>A	ENSP00000465818.1:p.Arg145Gln
ENST00000591534.5:c.977G>A	ENSP00000467329.1:p.Arg326Gln
ENST00000591849.5:c.203G>A	ENSP00000465347.1:p.Arg68Gln
NM_007294.3:c.5504G>A , LRG_292t1:c.5504G>A	NP_009225.1:p.Arg1835Gln
NM_007297.3:c.5363G>A	NP_009228.2:p.Arg1788Gln
NM_007298.3:c.2192G>A	NP_009229.2:p.Arg731Gln
NM_007299.3:c.*18G>A	NP_009230.2:n.*18G>A
NM_007300.3:c.5567G>A	NP_009231.2:p.Arg1856Gln
NR_027676.1:n.5640G>A
NM_007294.4:c.5504G>A MANE Select	NP_009225.1:p.Arg1835Gln
NM_007297.4:c.5363G>A	NP_009228.2:p.Arg1788Gln
NM_007299.4:c.*18G>A	NP_009230.2:n.*18G>A
NM_007300.4:c.5567G>A	NP_009231.2:p.Arg1856Gln
NR_027676.2:n.5681G>A