Canonical Allele Identifier: CA059893

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1059740
• ClinVar RCV Id: RCV001369088
• dbSNP Id: rs755614810
• ExAC: 17:41234471 G / A
• gnomAD v2: 17-41234471-G-A
• gnomAD v4: 17-43082454-G-A
• MyVariant Identifiers: chr17:g.41234471G>A (hg19) ; chr17:g.43082454G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082454G>A , CM000679.2:g.43082454G>A	GRCh38
NC_000017.10:g.41234471G>A , CM000679.1:g.41234471G>A	GRCh37
NC_000017.9:g.38487997G>A	NCBI36
NG_005905.2:g.135530C>T , LRG_292:g.135530C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4307C>T	ENSP00000417241.2:p.Ser1436Phe
ENST00000470026.6:c.4307C>T	ENSP00000419274.2:p.Ser1436Phe
ENST00000473961.6:c.4181C>T	ENSP00000420201.2:p.Ser1394Phe
ENST00000476777.6:c.4301C>T	ENSP00000417554.2:p.Ser1434Phe
ENST00000477152.6:c.4229C>T	ENSP00000419988.2:p.Ser1410Phe
ENST00000478531.6:c.995C>T	ENSP00000420412.2:p.Ser332Phe
ENST00000489037.2:c.4229C>T	ENSP00000420781.2:p.Ser1410Phe
ENST00000493919.6:c.857C>T	ENSP00000418819.2:p.Ser286Phe
ENST00000494123.6:c.4307C>T	ENSP00000419103.2:p.Ser1436Phe
ENST00000497488.2:c.3419C>T	ENSP00000418986.2:p.Ser1140Phe
ENST00000618469.2:c.4307C>T	ENSP00000478114.2:p.Ser1436Phe
ENST00000634433.2:c.4184C>T	ENSP00000489431.2:p.Ser1395Phe
ENST00000644379.2:c.4307C>T	ENSP00000496570.2:p.Ser1436Phe
ENST00000644555.2:c.857C>T	ENSP00000494614.2:p.Ser286Phe
ENST00000652672.2:c.4166C>T	ENSP00000498906.2:p.Ser1389Phe
ENST00000484087.6:c.872C>T	ENSP00000419481.2:p.Ser291Phe
ENST00000700182.1:c.917C>T	ENSP00000514849.1:p.Ser306Phe
ENST00000357654.9:c.4307C>T MANE Select	ENSP00000350283.3:p.Ser1436Phe
ENST00000471181.7:c.4307C>T	ENSP00000418960.2:p.Ser1436Phe
ENST00000644379.1:c.628C>T
ENST00000352993.7:c.881C>T	ENSP00000312236.5:p.Ser294Phe
ENST00000357654.7:c.4307C>T	ENSP00000350283.3:p.Ser1436Phe
ENST00000461221.5:c.*4090C>T	ENSP00000418548.1:n.*4090C>T
ENST00000461574.1:c.601C>T
ENST00000468300.5:c.998C>T	ENSP00000417148.1:p.Ser333Phe
ENST00000471181.6:c.4307C>T	ENSP00000418960.2:p.Ser1436Phe
ENST00000478531.5:c.995C>T	ENSP00000420412.1:p.Ser332Phe
ENST00000484087.5:c.620C>T	ENSP00000419481.1:p.Ser207Phe
ENST00000487825.5:c.623C>T	ENSP00000418212.1:p.Ser208Phe
ENST00000491747.6:c.998C>T	ENSP00000420705.2:p.Ser333Phe
ENST00000493795.5:c.4166C>T	ENSP00000418775.1:p.Ser1389Phe
ENST00000493919.5:c.857C>T	ENSP00000418819.1:p.Ser286Phe
ENST00000586385.5:c.5-18503C>T	ENSP00000465818.1:n.5-18503C>T
ENST00000591534.5:c.-43-7933C>T	ENSP00000467329.1:n.-43-7933C>T
ENST00000591849.5:c.-98-32264C>T	ENSP00000465347.1:n.-98-32264C>T
ENST00000621897.1:n.201C>T
NM_007294.3:c.4307C>T , LRG_292t1:c.4307C>T	NP_009225.1:p.Ser1436Phe
NM_007297.3:c.4166C>T	NP_009228.2:p.Ser1389Phe
NM_007298.3:c.998C>T	NP_009229.2:p.Ser333Phe
NM_007299.3:c.998C>T	NP_009230.2:p.Ser333Phe
NM_007300.3:c.4307C>T	NP_009231.2:p.Ser1436Phe
NR_027676.1:n.4443C>T
NM_007294.4:c.4307C>T MANE Select	NP_009225.1:p.Ser1436Phe
NM_007297.4:c.4166C>T	NP_009228.2:p.Ser1389Phe
NM_007299.4:c.998C>T	NP_009230.2:p.Ser333Phe
NM_007300.4:c.4307C>T	NP_009231.2:p.Ser1436Phe
NR_027676.2:n.4484C>T