Canonical Allele Identifier: CA053308

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2099260
• ClinVar RCV Id: RCV003022912
• dbSNP Id: rs747688901
• ExAC: 17:41223095 C / A
• gnomAD v2: 17-41223095-C-A
• gnomAD v4: 17-43071078-C-A
• MyVariant Identifiers: chr17:g.41223095C>A (hg19) ; chr17:g.43071078C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071078C>A , CM000679.2:g.43071078C>A	GRCh38
NC_000017.10:g.41223095C>A , CM000679.1:g.41223095C>A	GRCh37
NC_000017.9:g.38476621C>A	NCBI36
NG_005905.2:g.146906G>T , LRG_292:g.146906G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4833G>T	ENSP00000417241.2:p.Gln1611His
ENST00000470026.6:c.4836G>T	ENSP00000419274.2:p.Gln1612His
ENST00000473961.6:c.4710G>T	ENSP00000420201.2:p.Gln1570His
ENST00000476777.6:c.4830G>T	ENSP00000417554.2:p.Gln1610His
ENST00000477152.6:c.4758G>T	ENSP00000419988.2:p.Gln1586His
ENST00000478531.6:c.1524G>T	ENSP00000420412.2:p.Gln508His
ENST00000489037.2:c.4758G>T	ENSP00000420781.2:p.Gln1586His
ENST00000493919.6:c.1386G>T	ENSP00000418819.2:p.Gln462His
ENST00000494123.6:c.4836G>T	ENSP00000419103.2:p.Gln1612His
ENST00000497488.2:c.3948G>T	ENSP00000418986.2:p.Gln1316His
ENST00000618469.2:c.4836G>T	ENSP00000478114.2:p.Gln1612His
ENST00000634433.2:c.4713G>T	ENSP00000489431.2:p.Gln1571His
ENST00000644379.2:c.4902G>T	ENSP00000496570.2:p.Gln1634His
ENST00000644555.2:c.1386G>T	ENSP00000494614.2:p.Gln462His
ENST00000652672.2:c.4695G>T	ENSP00000498906.2:p.Gln1565His
ENST00000484087.6:c.1398G>T	ENSP00000419481.2:p.Gln466His
ENST00000700182.1:c.1443G>T	ENSP00000514849.1:p.Gln481His
ENST00000357654.9:c.4836G>T MANE Select	ENSP00000350283.3:p.Gln1612His
ENST00000471181.7:c.4899G>T	ENSP00000418960.2:p.Gln1633His
ENST00000644379.1:c.1223G>T
ENST00000352993.7:c.1410G>T	ENSP00000312236.5:p.Gln470His
ENST00000357654.7:c.4836G>T	ENSP00000350283.3:p.Gln1612His
ENST00000461221.5:c.*4619G>T	ENSP00000418548.1:n.*4619G>T
ENST00000468300.5:c.1524G>T	ENSP00000417148.1:p.Gln508His
ENST00000471181.6:c.4899G>T	ENSP00000418960.2:p.Gln1633His
ENST00000478531.5:c.1524G>T	ENSP00000420412.1:p.Gln508His
ENST00000484087.5:c.1149G>T	ENSP00000419481.1:p.Gln383His
ENST00000491747.6:c.1524G>T	ENSP00000420705.2:p.Gln508His
ENST00000493795.5:c.4695G>T	ENSP00000418775.1:p.Gln1565His
ENST00000493919.5:c.1386G>T	ENSP00000418819.1:p.Gln462His
ENST00000586385.5:c.5-7127G>T	ENSP00000465818.1:n.5-7127G>T
ENST00000591534.5:c.309G>T	ENSP00000467329.1:p.Gln103His
ENST00000591849.5:c.-98-20888G>T	ENSP00000465347.1:n.-98-20888G>T
NM_007294.3:c.4836G>T , LRG_292t1:c.4836G>T	NP_009225.1:p.Gln1612His
NM_007297.3:c.4695G>T	NP_009228.2:p.Gln1565His
NM_007298.3:c.1524G>T	NP_009229.2:p.Gln508His
NM_007299.3:c.1524G>T	NP_009230.2:p.Gln508His
NM_007300.3:c.4899G>T	NP_009231.2:p.Gln1633His
NR_027676.1:n.4972G>T
NM_007294.4:c.4836G>T MANE Select	NP_009225.1:p.Gln1612His
NM_007297.4:c.4695G>T	NP_009228.2:p.Gln1565His
NM_007299.4:c.1524G>T	NP_009230.2:p.Gln508His
NM_007300.4:c.4899G>T	NP_009231.2:p.Gln1633His
NR_027676.2:n.5013G>T