Canonical Allele Identifier: CA002699

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 182160
• ClinVar RCV Id: RCV000159988 ; RCV000466202 ; RCV001022002
• dbSNP Id: rs80357011
• gnomAD v2: 17-41234592-G-T
• gnomAD v3: 17-43082575-G-T
• gnomAD v4: 17-43082575-G-T
• MyVariant Identifiers: chr17:g.41234592G>T (hg19) ; chr17:g.43082575G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082575G>T , CM000679.2:g.43082575G>T	GRCh38
NC_000017.10:g.41234592G>T , CM000679.1:g.41234592G>T	GRCh37
NC_000017.9:g.38488118G>T	NCBI36
NG_005905.2:g.135409C>A , LRG_292:g.135409C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4186C>A	ENSP00000417241.2:p.Gln1396Lys
ENST00000470026.6:c.4186C>A	ENSP00000419274.2:p.Gln1396Lys
ENST00000473961.6:c.4060C>A	ENSP00000420201.2:p.Gln1354Lys
ENST00000476777.6:c.4183-3C>A	ENSP00000417554.2:n.4183-3C>A
ENST00000477152.6:c.4108C>A	ENSP00000419988.2:p.Gln1370Lys
ENST00000478531.6:c.874C>A	ENSP00000420412.2:p.Gln292Lys
ENST00000489037.2:c.4108C>A	ENSP00000420781.2:p.Gln1370Lys
ENST00000493919.6:c.736C>A	ENSP00000418819.2:p.Gln246Lys
ENST00000494123.6:c.4186C>A	ENSP00000419103.2:p.Gln1396Lys
ENST00000497488.2:c.3298C>A	ENSP00000418986.2:p.Gln1100Lys
ENST00000618469.2:c.4186C>A	ENSP00000478114.2:p.Gln1396Lys
ENST00000634433.2:c.4063C>A	ENSP00000489431.2:p.Gln1355Lys
ENST00000644379.2:c.4186C>A	ENSP00000496570.2:p.Gln1396Lys
ENST00000644555.2:c.736C>A	ENSP00000494614.2:p.Gln246Lys
ENST00000652672.2:c.4045C>A	ENSP00000498906.2:p.Gln1349Lys
ENST00000484087.6:c.754-3C>A	ENSP00000419481.2:n.754-3C>A
ENST00000700182.1:c.796C>A	ENSP00000514849.1:p.Gln266Lys
ENST00000357654.9:c.4186C>A MANE Select	ENSP00000350283.3:p.Gln1396Lys
ENST00000471181.7:c.4186C>A	ENSP00000418960.2:p.Gln1396Lys
ENST00000644379.1:c.507C>A
ENST00000352993.7:c.760C>A	ENSP00000312236.5:p.Gln254Lys
ENST00000357654.7:c.4186C>A	ENSP00000350283.3:p.Gln1396Lys
ENST00000461221.5:c.*3969C>A	ENSP00000418548.1:n.*3969C>A
ENST00000461574.1:c.480C>A
ENST00000468300.5:c.877C>A	ENSP00000417148.1:p.Gln293Lys
ENST00000471181.6:c.4186C>A	ENSP00000418960.2:p.Gln1396Lys
ENST00000478531.5:c.874C>A	ENSP00000420412.1:p.Gln292Lys
ENST00000484087.5:c.499C>A	ENSP00000419481.1:p.Gln167Lys
ENST00000487825.5:c.502C>A	ENSP00000418212.1:p.Gln168Lys
ENST00000491747.6:c.877C>A	ENSP00000420705.2:p.Gln293Lys
ENST00000493795.5:c.4045C>A	ENSP00000418775.1:p.Gln1349Lys
ENST00000493919.5:c.736C>A	ENSP00000418819.1:p.Gln246Lys
ENST00000586385.5:c.5-18624C>A	ENSP00000465818.1:n.5-18624C>A
ENST00000591534.5:c.-43-8054C>A	ENSP00000467329.1:n.-43-8054C>A
ENST00000591849.5:c.-98-32385C>A	ENSP00000465347.1:n.-98-32385C>A
ENST00000621897.1:n.80C>A
NM_007294.3:c.4186C>A , LRG_292t1:c.4186C>A	NP_009225.1:p.Gln1396Lys
NM_007297.3:c.4045C>A	NP_009228.2:p.Gln1349Lys
NM_007298.3:c.877C>A	NP_009229.2:p.Gln293Lys
NM_007299.3:c.877C>A	NP_009230.2:p.Gln293Lys
NM_007300.3:c.4186C>A	NP_009231.2:p.Gln1396Lys
NR_027676.1:n.4322C>A
NM_007294.4:c.4186C>A MANE Select	NP_009225.1:p.Gln1396Lys
NM_007297.4:c.4045C>A	NP_009228.2:p.Gln1349Lys
NM_007299.4:c.877C>A	NP_009230.2:p.Gln293Lys
NM_007300.4:c.4186C>A	NP_009231.2:p.Gln1396Lys
NR_027676.2:n.4363C>A