Canonical Allele Identifier: CA500148400

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 427259
• ClinVar RCV Id: RCV002056814 ; RCV002329169
• dbSNP Id: rs1131692074
• MyVariant Identifiers: chr17:g.41234515A>G (hg19) ; chr17:g.43082498A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082498A>G , CM000679.2:g.43082498A>G	GRCh38
NC_000017.10:g.41234515A>G , CM000679.1:g.41234515A>G	GRCh37
NC_000017.9:g.38488041A>G	NCBI36
NG_005905.2:g.135486T>C , LRG_292:g.135486T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4263T>C	ENSP00000417241.2:p.His1421=
ENST00000470026.6:c.4263T>C	ENSP00000419274.2:p.His1421=
ENST00000473961.6:c.4137T>C	ENSP00000420201.2:p.His1379=
ENST00000476777.6:c.4257T>C	ENSP00000417554.2:p.His1419=
ENST00000477152.6:c.4185T>C	ENSP00000419988.2:p.His1395=
ENST00000478531.6:c.951T>C	ENSP00000420412.2:p.His317=
ENST00000489037.2:c.4185T>C	ENSP00000420781.2:p.His1395=
ENST00000493919.6:c.813T>C	ENSP00000418819.2:p.His271=
ENST00000494123.6:c.4263T>C	ENSP00000419103.2:p.His1421=
ENST00000497488.2:c.3375T>C	ENSP00000418986.2:p.His1125=
ENST00000618469.2:c.4263T>C	ENSP00000478114.2:p.His1421=
ENST00000634433.2:c.4140T>C	ENSP00000489431.2:p.His1380=
ENST00000644379.2:c.4263T>C	ENSP00000496570.2:p.His1421=
ENST00000644555.2:c.813T>C	ENSP00000494614.2:p.His271=
ENST00000652672.2:c.4122T>C	ENSP00000498906.2:p.His1374=
ENST00000484087.6:c.828T>C	ENSP00000419481.2:p.His276=
ENST00000700182.1:c.873T>C	ENSP00000514849.1:p.His291=
ENST00000357654.9:c.4263T>C MANE Select	ENSP00000350283.3:p.His1421=
ENST00000471181.7:c.4263T>C	ENSP00000418960.2:p.His1421=
ENST00000644379.1:c.584T>C
ENST00000352993.7:c.837T>C	ENSP00000312236.5:p.His279=
ENST00000357654.7:c.4263T>C	ENSP00000350283.3:p.His1421=
ENST00000461221.5:c.*4046T>C	ENSP00000418548.1:n.*4046T>C
ENST00000461574.1:c.557T>C
ENST00000468300.5:c.954T>C	ENSP00000417148.1:p.His318=
ENST00000471181.6:c.4263T>C	ENSP00000418960.2:p.His1421=
ENST00000478531.5:c.951T>C	ENSP00000420412.1:p.His317=
ENST00000484087.5:c.576T>C	ENSP00000419481.1:p.His192=
ENST00000487825.5:c.579T>C	ENSP00000418212.1:p.His193=
ENST00000491747.6:c.954T>C	ENSP00000420705.2:p.His318=
ENST00000493795.5:c.4122T>C	ENSP00000418775.1:p.His1374=
ENST00000493919.5:c.813T>C	ENSP00000418819.1:p.His271=
ENST00000586385.5:c.5-18547T>C	ENSP00000465818.1:n.5-18547T>C
ENST00000591534.5:c.-43-7977T>C	ENSP00000467329.1:n.-43-7977T>C
ENST00000591849.5:c.-98-32308T>C	ENSP00000465347.1:n.-98-32308T>C
ENST00000621897.1:n.157T>C
NM_007294.3:c.4263T>C , LRG_292t1:c.4263T>C	NP_009225.1:p.His1421=
NM_007297.3:c.4122T>C	NP_009228.2:p.His1374=
NM_007298.3:c.954T>C	NP_009229.2:p.His318=
NM_007299.3:c.954T>C	NP_009230.2:p.His318=
NM_007300.3:c.4263T>C	NP_009231.2:p.His1421=
NR_027676.1:n.4399T>C
NM_007294.4:c.4263T>C MANE Select	NP_009225.1:p.His1421=
NM_007297.4:c.4122T>C	NP_009228.2:p.His1374=
NM_007299.4:c.954T>C	NP_009230.2:p.His318=
NM_007300.4:c.4263T>C	NP_009231.2:p.His1421=
NR_027676.2:n.4440T>C