Canonical Allele Identifier: CA002768

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 17676
• ClinVar RCV Id: RCV000019245 ; RCV000048522 ; RCV000129043 ; RCV000427206 ; RCV000588512 ; RCV004554606
• dbSNP Id: rs41293455
• ExAC: 17:41234451 G / C
• gnomAD v2: 17-41234451-G-C
• gnomAD v3: 17-43082434-G-C
• gnomAD v4: 17-43082434-G-C
• MyVariant Identifiers: chr17:g.41234451G>C (hg19) ; chr17:g.43082434G>C (hg38)
• PubMed: PMID:7837387 ; PMID:7894491 ; PMID:8807330 ; PMID:8872468 ; PMID:8968716 ; PMID:10984458 ; PMID:16267036 ; PMID:17308087 ; PMID:17924331 ; PMID:18992264 ; PMID:19369211 ; PMID:19491284 ; PMID:21447777 ; PMID:21990134 ; PMID:23569533 ; PMID:23867111 ; PMID:25525159 ; PMID:25556971

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082434G>C , CM000679.2:g.43082434G>C	GRCh38
NC_000017.10:g.41234451G>C , CM000679.1:g.41234451G>C	GRCh37
NC_000017.9:g.38487977G>C	NCBI36
NG_005905.2:g.135550C>G , LRG_292:g.135550C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4327C>G	ENSP00000417241.2:p.Arg1443Gly
ENST00000470026.6:c.4327C>G	ENSP00000419274.2:p.Arg1443Gly
ENST00000473961.6:c.4201C>G	ENSP00000420201.2:p.Arg1401Gly
ENST00000476777.6:c.4321C>G	ENSP00000417554.2:p.Arg1441Gly
ENST00000477152.6:c.4249C>G	ENSP00000419988.2:p.Arg1417Gly
ENST00000478531.6:c.1015C>G	ENSP00000420412.2:p.Arg339Gly
ENST00000489037.2:c.4249C>G	ENSP00000420781.2:p.Arg1417Gly
ENST00000493919.6:c.877C>G	ENSP00000418819.2:p.Arg293Gly
ENST00000494123.6:c.4327C>G	ENSP00000419103.2:p.Arg1443Gly
ENST00000497488.2:c.3439C>G	ENSP00000418986.2:p.Arg1147Gly
ENST00000618469.2:c.4327C>G	ENSP00000478114.2:p.Arg1443Gly
ENST00000634433.2:c.4204C>G	ENSP00000489431.2:p.Arg1402Gly
ENST00000644379.2:c.4327C>G	ENSP00000496570.2:p.Arg1443Gly
ENST00000644555.2:c.877C>G	ENSP00000494614.2:p.Arg293Gly
ENST00000652672.2:c.4186C>G	ENSP00000498906.2:p.Arg1396Gly
ENST00000484087.6:c.892C>G	ENSP00000419481.2:p.Arg298Gly
ENST00000700182.1:c.937C>G	ENSP00000514849.1:p.Arg313Gly
ENST00000357654.9:c.4327C>G MANE Select	ENSP00000350283.3:p.Arg1443Gly
ENST00000471181.7:c.4327C>G	ENSP00000418960.2:p.Arg1443Gly
ENST00000644379.1:c.648C>G
ENST00000352993.7:c.901C>G	ENSP00000312236.5:p.Arg301Gly
ENST00000357654.7:c.4327C>G	ENSP00000350283.3:p.Arg1443Gly
ENST00000461221.5:c.*4110C>G	ENSP00000418548.1:n.*4110C>G
ENST00000461574.1:c.621C>G
ENST00000468300.5:c.1018C>G	ENSP00000417148.1:p.Arg340Gly
ENST00000471181.6:c.4327C>G	ENSP00000418960.2:p.Arg1443Gly
ENST00000478531.5:c.1015C>G	ENSP00000420412.1:p.Arg339Gly
ENST00000484087.5:c.640C>G	ENSP00000419481.1:p.Arg214Gly
ENST00000487825.5:c.643C>G	ENSP00000418212.1:p.Arg215Gly
ENST00000491747.6:c.1018C>G	ENSP00000420705.2:p.Arg340Gly
ENST00000493795.5:c.4186C>G	ENSP00000418775.1:p.Arg1396Gly
ENST00000493919.5:c.877C>G	ENSP00000418819.1:p.Arg293Gly
ENST00000586385.5:c.5-18483C>G	ENSP00000465818.1:n.5-18483C>G
ENST00000591534.5:c.-43-7913C>G	ENSP00000467329.1:n.-43-7913C>G
ENST00000591849.5:c.-98-32244C>G	ENSP00000465347.1:n.-98-32244C>G
ENST00000621897.1:n.221C>G
NM_007294.3:c.4327C>G , LRG_292t1:c.4327C>G	NP_009225.1:p.Arg1443Gly
NM_007297.3:c.4186C>G	NP_009228.2:p.Arg1396Gly
NM_007298.3:c.1018C>G	NP_009229.2:p.Arg340Gly
NM_007299.3:c.1018C>G	NP_009230.2:p.Arg340Gly
NM_007300.3:c.4327C>G	NP_009231.2:p.Arg1443Gly
NR_027676.1:n.4463C>G
NM_007294.4:c.4327C>G MANE Select	NP_009225.1:p.Arg1443Gly
NM_007297.4:c.4186C>G	NP_009228.2:p.Arg1396Gly
NM_007299.4:c.1018C>G	NP_009230.2:p.Arg340Gly
NM_007300.4:c.4327C>G	NP_009231.2:p.Arg1443Gly
NR_027676.2:n.4504C>G