Canonical Allele Identifier: CA290829570

Gene: BRCA1

Linked Data

• dbSNP Id: rs776615007
• gnomAD v3: 17-43070155-T-G
• gnomAD v4: 17-43070155-T-G
• MyVariant Identifiers: chr17:g.41222172T>G (hg19) ; chr17:g.43070155T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070155T>G , CM000679.2:g.43070155T>G	GRCh38
NC_000017.10:g.41222172T>G , CM000679.1:g.41222172T>G	GRCh37
NC_000017.9:g.38475698T>G	NCBI36
NG_005905.2:g.147829A>C , LRG_292:g.147829A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4983+773A>C	ENSP00000417241.2:n.4983+773A>C
ENST00000470026.6:c.4986+773A>C	ENSP00000419274.2:n.4986+773A>C
ENST00000473961.6:c.4860+773A>C	ENSP00000420201.2:n.4860+773A>C
ENST00000476777.6:c.4980+773A>C	ENSP00000417554.2:n.4980+773A>C
ENST00000477152.6:c.4908+773A>C	ENSP00000419988.2:n.4908+773A>C
ENST00000478531.6:c.1674+773A>C	ENSP00000420412.2:n.1674+773A>C
ENST00000489037.2:c.4908+773A>C	ENSP00000420781.2:n.4908+773A>C
ENST00000493919.6:c.1536+773A>C	ENSP00000418819.2:n.1536+773A>C
ENST00000494123.6:c.4986+773A>C	ENSP00000419103.2:n.4986+773A>C
ENST00000497488.2:c.4098+773A>C	ENSP00000418986.2:n.4098+773A>C
ENST00000618469.2:c.4986+773A>C	ENSP00000478114.2:n.4986+773A>C
ENST00000634433.2:c.4863+773A>C	ENSP00000489431.2:n.4863+773A>C
ENST00000644379.2:c.5052+773A>C	ENSP00000496570.2:n.5052+773A>C
ENST00000644555.2:c.1536+773A>C	ENSP00000494614.2:n.1536+773A>C
ENST00000652672.2:c.4845+773A>C	ENSP00000498906.2:n.4845+773A>C
ENST00000484087.6:c.1548+773A>C	ENSP00000419481.2:n.1548+773A>C
ENST00000357654.9:c.4986+773A>C MANE Select	ENSP00000350283.3:n.4986+773A>C
ENST00000471181.7:c.5049+773A>C	ENSP00000418960.2:n.5049+773A>C
ENST00000644379.1:c.1373+773A>C
ENST00000352993.7:c.1560+773A>C	ENSP00000312236.5:n.1560+773A>C
ENST00000357654.7:c.4986+773A>C	ENSP00000350283.3:n.4986+773A>C
ENST00000461221.5:c.*4769+773A>C	ENSP00000418548.1:n.*4769+773A>C
ENST00000468300.5:c.1674+773A>C	ENSP00000417148.1:n.1674+773A>C
ENST00000471181.6:c.5049+773A>C	ENSP00000418960.2:n.5049+773A>C
ENST00000472490.1:n.139+773A>C
ENST00000478531.5:c.1674+773A>C	ENSP00000420412.1:n.1674+773A>C
ENST00000484087.5:c.1299+773A>C	ENSP00000419481.1:n.1299+773A>C
ENST00000491747.6:c.1674+773A>C	ENSP00000420705.2:n.1674+773A>C
ENST00000493795.5:c.4845+773A>C	ENSP00000418775.1:n.4845+773A>C
ENST00000493919.5:c.1536+773A>C	ENSP00000418819.1:n.1536+773A>C
ENST00000586385.5:c.5-6204A>C	ENSP00000465818.1:n.5-6204A>C
ENST00000591534.5:c.459+773A>C	ENSP00000467329.1:n.459+773A>C
ENST00000591849.5:c.-98-19965A>C	ENSP00000465347.1:n.-98-19965A>C
NM_007294.3:c.4986+773A>C , LRG_292t1:c.4986+773A>C	NP_009225.1:n.4986+773A>C
NM_007297.3:c.4845+773A>C	NP_009228.2:n.4845+773A>C
NM_007298.3:c.1674+773A>C	NP_009229.2:n.1674+773A>C
NM_007299.3:c.1674+773A>C	NP_009230.2:n.1674+773A>C
NM_007300.3:c.5049+773A>C	NP_009231.2:n.5049+773A>C
NR_027676.1:n.5122+773A>C
NM_007294.4:c.4986+773A>C MANE Select	NP_009225.1:n.4986+773A>C
NM_007297.4:c.4845+773A>C	NP_009228.2:n.4845+773A>C
NM_007299.4:c.1674+773A>C	NP_009230.2:n.1674+773A>C
NM_007300.4:c.5049+773A>C	NP_009231.2:n.5049+773A>C
NR_027676.2:n.5163+773A>C