Canonical Allele Identifier: CA052594

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 377572
• ClinVar RCV Id: RCV000419799 ; RCV000495091 ; RCV000561821 ; RCV000679698 ; RCV001084079
• dbSNP Id: rs373686790
• ExAC: 17:41226388 G / A
• gnomAD v2: 17-41226388-G-A
• gnomAD v3: 17-43074371-G-A
• gnomAD v4: 17-43074371-G-A
• MyVariant Identifiers: chr17:g.41226388G>A (hg19) ; chr17:g.43074371G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074371G>A , CM000679.2:g.43074371G>A	GRCh38
NC_000017.10:g.41226388G>A , CM000679.1:g.41226388G>A	GRCh37
NC_000017.9:g.38479914G>A	NCBI36
NG_005905.2:g.143613C>T , LRG_292:g.143613C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4632C>T	ENSP00000417241.2:p.His1544=
ENST00000470026.6:c.4635C>T	ENSP00000419274.2:p.His1545=
ENST00000473961.6:c.4509C>T	ENSP00000420201.2:p.His1503=
ENST00000476777.6:c.4629C>T	ENSP00000417554.2:p.His1543=
ENST00000477152.6:c.4557C>T	ENSP00000419988.2:p.His1519=
ENST00000478531.6:c.1323C>T	ENSP00000420412.2:p.His441=
ENST00000489037.2:c.4557C>T	ENSP00000420781.2:p.His1519=
ENST00000493919.6:c.1185C>T	ENSP00000418819.2:p.His395=
ENST00000494123.6:c.4635C>T	ENSP00000419103.2:p.His1545=
ENST00000497488.2:c.3747C>T	ENSP00000418986.2:p.His1249=
ENST00000618469.2:c.4635C>T	ENSP00000478114.2:p.His1545=
ENST00000634433.2:c.4512C>T	ENSP00000489431.2:p.His1504=
ENST00000644379.2:c.4701C>T	ENSP00000496570.2:p.His1567=
ENST00000644555.2:c.1185C>T	ENSP00000494614.2:p.His395=
ENST00000652672.2:c.4494C>T	ENSP00000498906.2:p.His1498=
ENST00000484087.6:c.1197C>T	ENSP00000419481.2:p.His399=
ENST00000700182.1:c.1242C>T	ENSP00000514849.1:p.His414=
ENST00000357654.9:c.4635C>T MANE Select	ENSP00000350283.3:p.His1545=
ENST00000471181.7:c.4698C>T	ENSP00000418960.2:p.His1566=
ENST00000644379.1:c.1022C>T
ENST00000352993.7:c.1209C>T	ENSP00000312236.5:p.His403=
ENST00000357654.7:c.4635C>T	ENSP00000350283.3:p.His1545=
ENST00000461221.5:c.*4418C>T	ENSP00000418548.1:n.*4418C>T
ENST00000468300.5:c.1323C>T	ENSP00000417148.1:p.His441=
ENST00000471181.6:c.4698C>T	ENSP00000418960.2:p.His1566=
ENST00000478531.5:c.1323C>T	ENSP00000420412.1:p.His441=
ENST00000484087.5:c.948C>T	ENSP00000419481.1:p.His316=
ENST00000491747.6:c.1323C>T	ENSP00000420705.2:p.His441=
ENST00000493795.5:c.4494C>T	ENSP00000418775.1:p.His1498=
ENST00000493919.5:c.1185C>T	ENSP00000418819.1:p.His395=
ENST00000586385.5:c.5-10420C>T	ENSP00000465818.1:n.5-10420C>T
ENST00000591534.5:c.108C>T	ENSP00000467329.1:p.His36=
ENST00000591849.5:c.-98-24181C>T	ENSP00000465347.1:n.-98-24181C>T
NM_007294.3:c.4635C>T , LRG_292t1:c.4635C>T	NP_009225.1:p.His1545=
NM_007297.3:c.4494C>T	NP_009228.2:p.His1498=
NM_007298.3:c.1323C>T	NP_009229.2:p.His441=
NM_007299.3:c.1323C>T	NP_009230.2:p.His441=
NM_007300.3:c.4698C>T	NP_009231.2:p.His1566=
NR_027676.1:n.4771C>T
NM_007294.4:c.4635C>T MANE Select	NP_009225.1:p.His1545=
NM_007297.4:c.4494C>T	NP_009228.2:p.His1498=
NM_007299.4:c.1323C>T	NP_009230.2:p.His441=
NM_007300.4:c.4698C>T	NP_009231.2:p.His1566=
NR_027676.2:n.4812C>T