Canonical Allele Identifier: CA10590258

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868627
• ClinVar RCV Id: RCV001077563
• dbSNP Id: rs80357323
• gnomAD v4: 17-43045739-A-T
• MyVariant Identifiers: chr17:g.41197756A>T (hg19) ; chr17:g.43045739A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045739A>T , CM000679.2:g.43045739A>T	GRCh38
NC_000017.10:g.41197756A>T , CM000679.1:g.41197756A>T	GRCh37
NC_000017.9:g.38451282A>T	NCBI36
NG_005905.2:g.172245T>A , LRG_292:g.172245T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5528T>A	ENSP00000417241.2:p.Leu1843His
ENST00000470026.6:c.5531T>A	ENSP00000419274.2:p.Leu1844His
ENST00000473961.6:c.5405T>A	ENSP00000420201.2:p.Leu1802His
ENST00000476777.6:c.5525T>A	ENSP00000417554.2:p.Leu1842His
ENST00000477152.6:c.5453T>A	ENSP00000419988.2:p.Leu1818His
ENST00000478531.6:c.2219T>A	ENSP00000420412.2:p.Leu740His
ENST00000489037.2:c.5453T>A	ENSP00000420781.2:p.Leu1818His
ENST00000493919.6:c.2081T>A	ENSP00000418819.2:p.Leu694His
ENST00000494123.6:c.5531T>A	ENSP00000419103.2:p.Leu1844His
ENST00000497488.2:c.4643T>A	ENSP00000418986.2:p.Leu1548His
ENST00000618469.2:c.5531T>A	ENSP00000478114.2:p.Leu1844His
ENST00000634433.2:c.5408T>A	ENSP00000489431.2:p.Leu1803His
ENST00000644379.2:c.5597T>A	ENSP00000496570.2:p.Leu1866His
ENST00000644555.2:c.2081T>A	ENSP00000494614.2:p.Leu694His
ENST00000652672.2:c.5390T>A	ENSP00000498906.2:p.Leu1797His
ENST00000484087.6:c.2093T>A	ENSP00000419481.2:p.Leu698His
ENST00000700081.1:n.1414T>A
ENST00000700082.1:n.895T>A
ENST00000357654.9:c.5531T>A MANE Select	ENSP00000350283.3:p.Leu1844His
ENST00000471181.7:c.5594T>A	ENSP00000418960.2:p.Leu1865His
ENST00000644379.1:c.1918T>A
ENST00000352993.7:c.2105T>A	ENSP00000312236.5:p.Leu702His
ENST00000357654.7:c.5531T>A	ENSP00000350283.3:p.Leu1844His
ENST00000461221.5:c.*5314T>A	ENSP00000418548.1:n.*5314T>A
ENST00000468300.5:c.*45T>A	ENSP00000417148.1:n.*45T>A
ENST00000471181.6:c.5594T>A	ENSP00000418960.2:p.Leu1865His
ENST00000491747.6:c.2219T>A	ENSP00000420705.2:p.Leu740His
ENST00000493795.5:c.5390T>A	ENSP00000418775.1:p.Leu1797His
ENST00000586385.5:c.461T>A	ENSP00000465818.1:p.Leu154His
ENST00000591534.5:c.1004T>A	ENSP00000467329.1:p.Leu335His
ENST00000591849.5:c.230T>A	ENSP00000465347.1:p.Leu77His
NM_007294.3:c.5531T>A , LRG_292t1:c.5531T>A	NP_009225.1:p.Leu1844His
NM_007297.3:c.5390T>A	NP_009228.2:p.Leu1797His
NM_007298.3:c.2219T>A	NP_009229.2:p.Leu740His
NM_007299.3:c.*45T>A	NP_009230.2:n.*45T>A
NM_007300.3:c.5594T>A	NP_009231.2:p.Leu1865His
NR_027676.1:n.5667T>A
NM_007294.4:c.5531T>A MANE Select	NP_009225.1:p.Leu1844His
NM_007297.4:c.5390T>A	NP_009228.2:p.Leu1797His
NM_007299.4:c.*45T>A	NP_009230.2:n.*45T>A
NM_007300.4:c.5594T>A	NP_009231.2:p.Leu1865His
NR_027676.2:n.5708T>A