Canonical Allele Identifier: CA002943

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 184245
• ClinVar RCV Id: RCV000163459 ; RCV000206403 ; RCV000502663 ; RCV000495099 ; RCV002267902
• dbSNP Id: rs28897692
• ExAC: 17:41226379 C / T
• gnomAD v2: 17-41226379-C-T
• gnomAD v3: 17-43074362-C-T
• gnomAD v4: 17-43074362-C-T
• MyVariant Identifiers: chr17:g.41226379C>T (hg19) ; chr17:g.43074362C>T (hg38)
• PubMed: PMID:21318380 ; PMID:22874498

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074362C>T , CM000679.2:g.43074362C>T	GRCh38
NC_000017.10:g.41226379C>T , CM000679.1:g.41226379C>T	GRCh37
NC_000017.9:g.38479905C>T	NCBI36
NG_005905.2:g.143622G>A , LRG_292:g.143622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4641G>A	ENSP00000417241.2:p.Thr1547=
ENST00000470026.6:c.4644G>A	ENSP00000419274.2:p.Thr1548=
ENST00000473961.6:c.4518G>A	ENSP00000420201.2:p.Thr1506=
ENST00000476777.6:c.4638G>A	ENSP00000417554.2:p.Thr1546=
ENST00000477152.6:c.4566G>A	ENSP00000419988.2:p.Thr1522=
ENST00000478531.6:c.1332G>A	ENSP00000420412.2:p.Thr444=
ENST00000489037.2:c.4566G>A	ENSP00000420781.2:p.Thr1522=
ENST00000493919.6:c.1194G>A	ENSP00000418819.2:p.Thr398=
ENST00000494123.6:c.4644G>A	ENSP00000419103.2:p.Thr1548=
ENST00000497488.2:c.3756G>A	ENSP00000418986.2:p.Thr1252=
ENST00000618469.2:c.4644G>A	ENSP00000478114.2:p.Thr1548=
ENST00000634433.2:c.4521G>A	ENSP00000489431.2:p.Thr1507=
ENST00000644379.2:c.4710G>A	ENSP00000496570.2:p.Thr1570=
ENST00000644555.2:c.1194G>A	ENSP00000494614.2:p.Thr398=
ENST00000652672.2:c.4503G>A	ENSP00000498906.2:p.Thr1501=
ENST00000484087.6:c.1206G>A	ENSP00000419481.2:p.Thr402=
ENST00000700182.1:c.1251G>A	ENSP00000514849.1:p.Thr417=
ENST00000357654.9:c.4644G>A MANE Select	ENSP00000350283.3:p.Thr1548=
ENST00000471181.7:c.4707G>A	ENSP00000418960.2:p.Thr1569=
ENST00000644379.1:c.1031G>A
ENST00000352993.7:c.1218G>A	ENSP00000312236.5:p.Thr406=
ENST00000357654.7:c.4644G>A	ENSP00000350283.3:p.Thr1548=
ENST00000461221.5:c.*4427G>A	ENSP00000418548.1:n.*4427G>A
ENST00000468300.5:c.1332G>A	ENSP00000417148.1:p.Thr444=
ENST00000471181.6:c.4707G>A	ENSP00000418960.2:p.Thr1569=
ENST00000478531.5:c.1332G>A	ENSP00000420412.1:p.Thr444=
ENST00000484087.5:c.957G>A	ENSP00000419481.1:p.Thr319=
ENST00000491747.6:c.1332G>A	ENSP00000420705.2:p.Thr444=
ENST00000493795.5:c.4503G>A	ENSP00000418775.1:p.Thr1501=
ENST00000493919.5:c.1194G>A	ENSP00000418819.1:p.Thr398=
ENST00000586385.5:c.5-10411G>A	ENSP00000465818.1:n.5-10411G>A
ENST00000591534.5:c.117G>A	ENSP00000467329.1:p.Thr39=
ENST00000591849.5:c.-98-24172G>A	ENSP00000465347.1:n.-98-24172G>A
NM_007294.3:c.4644G>A , LRG_292t1:c.4644G>A	NP_009225.1:p.Thr1548=
NM_007297.3:c.4503G>A	NP_009228.2:p.Thr1501=
NM_007298.3:c.1332G>A	NP_009229.2:p.Thr444=
NM_007299.3:c.1332G>A	NP_009230.2:p.Thr444=
NM_007300.3:c.4707G>A	NP_009231.2:p.Thr1569=
NR_027676.1:n.4780G>A
NM_007294.4:c.4644G>A MANE Select	NP_009225.1:p.Thr1548=
NM_007297.4:c.4503G>A	NP_009228.2:p.Thr1501=
NM_007299.4:c.1332G>A	NP_009230.2:p.Thr444=
NM_007300.4:c.4707G>A	NP_009231.2:p.Thr1569=
NR_027676.2:n.4821G>A