Canonical Allele Identifier: CA10593355

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1410374
• ClinVar RCV Id: RCV001916414
• dbSNP Id: rs80356857
• gnomAD v4: 17-43090944-C-A
• MyVariant Identifiers: chr17:g.41242961C>A (hg19) ; chr17:g.43090944C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090944C>A , CM000679.2:g.43090944C>A	GRCh38
NC_000017.10:g.41242961C>A , CM000679.1:g.41242961C>A	GRCh37
NC_000017.9:g.38496487C>A	NCBI36
NG_005905.2:g.127040G>T , LRG_292:g.127040G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4185G>T	ENSP00000417241.2:p.Gln1395His
ENST00000470026.6:c.4185G>T	ENSP00000419274.2:p.Gln1395His
ENST00000473961.6:c.4059G>T	ENSP00000420201.2:p.Gln1353His
ENST00000476777.6:c.4182G>T	ENSP00000417554.2:p.Gln1394His
ENST00000477152.6:c.4107G>T	ENSP00000419988.2:p.Gln1369His
ENST00000478531.6:c.873G>T	ENSP00000420412.2:p.Gln291His
ENST00000489037.2:c.4107G>T	ENSP00000420781.2:p.Gln1369His
ENST00000493919.6:c.735G>T	ENSP00000418819.2:p.Gln245His
ENST00000494123.6:c.4185G>T	ENSP00000419103.2:p.Gln1395His
ENST00000497488.2:c.3297G>T	ENSP00000418986.2:p.Gln1099His
ENST00000618469.2:c.4185G>T	ENSP00000478114.2:p.Gln1395His
ENST00000634433.2:c.4062G>T	ENSP00000489431.2:p.Gln1354His
ENST00000644379.2:c.4185G>T	ENSP00000496570.2:p.Gln1395His
ENST00000644555.2:c.735G>T	ENSP00000494614.2:p.Gln245His
ENST00000652672.2:c.4044G>T	ENSP00000498906.2:p.Gln1348His
ENST00000484087.6:c.753G>T	ENSP00000419481.2:p.Gln251His
ENST00000700182.1:c.795G>T	ENSP00000514849.1:p.Gln265His
ENST00000357654.9:c.4185G>T MANE Select	ENSP00000350283.3:p.Gln1395His
ENST00000471181.7:c.4185G>T	ENSP00000418960.2:p.Gln1395His
ENST00000644379.1:c.506G>T
ENST00000352993.7:c.759G>T	ENSP00000312236.5:p.Gln253His
ENST00000357654.7:c.4185G>T	ENSP00000350283.3:p.Gln1395His
ENST00000461221.5:c.*3968G>T	ENSP00000418548.1:n.*3968G>T
ENST00000461574.1:c.479G>T
ENST00000468300.5:c.876G>T	ENSP00000417148.1:p.Gln292His
ENST00000471181.6:c.4185G>T	ENSP00000418960.2:p.Gln1395His
ENST00000478531.5:c.873G>T	ENSP00000420412.1:p.Gln291His
ENST00000484087.5:c.498G>T	ENSP00000419481.1:p.Gln166His
ENST00000487825.5:c.501G>T	ENSP00000418212.1:p.Gln167His
ENST00000491747.6:c.876G>T	ENSP00000420705.2:p.Gln292His
ENST00000493795.5:c.4044G>T	ENSP00000418775.1:p.Gln1348His
ENST00000493919.5:c.735G>T	ENSP00000418819.1:p.Gln245His
ENST00000586385.5:c.5-26993G>T	ENSP00000465818.1:n.5-26993G>T
ENST00000591534.5:c.-43-16423G>T	ENSP00000467329.1:n.-43-16423G>T
ENST00000591849.5:c.-99+34327G>T	ENSP00000465347.1:n.-99+34327G>T
NM_007294.3:c.4185G>T , LRG_292t1:c.4185G>T	NP_009225.1:p.Gln1395His
NM_007297.3:c.4044G>T	NP_009228.2:p.Gln1348His
NM_007298.3:c.876G>T	NP_009229.2:p.Gln292His
NM_007299.3:c.876G>T	NP_009230.2:p.Gln292His
NM_007300.3:c.4185G>T	NP_009231.2:p.Gln1395His
NR_027676.1:n.4321G>T
NM_007294.4:c.4185G>T MANE Select	NP_009225.1:p.Gln1395His
NM_007297.4:c.4044G>T	NP_009228.2:p.Gln1348His
NM_007299.4:c.876G>T	NP_009230.2:p.Gln292His
NM_007300.4:c.4185G>T	NP_009231.2:p.Gln1395His
NR_027676.2:n.4362G>T