Canonical Allele Identifier: CA002769

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 17675
• ClinVar RCV Id: RCV000019244 ; RCV000048523 ; RCV000131880 ; RCV000159989 ; RCV000235131 ; RCV000239083 ; RCV000763000 ; RCV000735445 ; RCV001353404
• dbSNP Id: rs41293455
• ExAC: 17:41234451 G / A
• gnomAD v2: 17-41234451-G-A
• gnomAD v3: 17-43082434-G-A
• gnomAD v4: 17-43082434-G-A
• COSMIC: COSM979730 ; COSM4870621
• MyVariant Identifiers: chr17:g.41234451G>A (hg19) ; chr17:g.43082434G>A (hg38)
• CIViC: CA002769
• PubMed: PMID:7493024 ; PMID:7894491 ; PMID:8533757 ; PMID:8571953 ; PMID:8990217 ; PMID:9625424 ; PMID:9792861 ; PMID:10422801 ; PMID:10682662 ; PMID:10984458 ; PMID:11179017 ; PMID:15726418 ; PMID:15883839 ; PMID:15951958 ; PMID:16030099 ; PMID:16417652 ; PMID:17221156 ; PMID:17591843 ; PMID:18680205 ; PMID:18821011 ; PMID:19241424 ; PMID:19329713 ; PMID:19656415 ; PMID:19863560 ; PMID:20694749 ; PMID:21203900 ; PMID:21324516 ; PMID:22401979 ; PMID:22798144 ; PMID:23199084 ; PMID:23341105 ; PMID:23891399 ; PMID:25085752 ; PMID:25652403 ; PMID:26180923 ; PMID:26295337 ; PMID:27469594

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4327C>T	ENSP00000417241.2:p.Arg1443Ter
ENST00000470026.6:c.4327C>T	ENSP00000419274.2:p.Arg1443Ter
ENST00000473961.6:c.4201C>T	ENSP00000420201.2:p.Arg1401Ter
ENST00000476777.6:c.4321C>T	ENSP00000417554.2:p.Arg1441Ter
ENST00000477152.6:c.4249C>T	ENSP00000419988.2:p.Arg1417Ter
ENST00000478531.6:c.1015C>T	ENSP00000420412.2:p.Arg339Ter
ENST00000489037.2:c.4249C>T	ENSP00000420781.2:p.Arg1417Ter
ENST00000493919.6:c.877C>T	ENSP00000418819.2:p.Arg293Ter
ENST00000494123.6:c.4327C>T	ENSP00000419103.2:p.Arg1443Ter
ENST00000497488.2:c.3439C>T	ENSP00000418986.2:p.Arg1147Ter
ENST00000618469.2:c.4327C>T	ENSP00000478114.2:p.Arg1443Ter
ENST00000634433.2:c.4204C>T	ENSP00000489431.2:p.Arg1402Ter
ENST00000644379.2:c.4327C>T	ENSP00000496570.2:p.Arg1443Ter
ENST00000644555.2:c.877C>T	ENSP00000494614.2:p.Arg293Ter
ENST00000652672.2:c.4186C>T	ENSP00000498906.2:p.Arg1396Ter
ENST00000484087.6:c.892C>T	ENSP00000419481.2:p.Arg298Ter
ENST00000700182.1:c.937C>T	ENSP00000514849.1:p.Arg313Ter
ENST00000357654.9:c.4327C>T MANE Select	ENSP00000350283.3:p.Arg1443Ter
ENST00000471181.7:c.4327C>T	ENSP00000418960.2:p.Arg1443Ter
ENST00000644379.1:c.648C>T
ENST00000352993.7:c.901C>T	ENSP00000312236.5:p.Arg301Ter
ENST00000357654.7:c.4327C>T	ENSP00000350283.3:p.Arg1443Ter
ENST00000461221.5:c.*4110C>T	ENSP00000418548.1:n.*4110C>T
ENST00000461574.1:c.621C>T
ENST00000468300.5:c.1018C>T	ENSP00000417148.1:p.Arg340Ter
ENST00000471181.6:c.4327C>T	ENSP00000418960.2:p.Arg1443Ter
ENST00000478531.5:c.1015C>T	ENSP00000420412.1:p.Arg339Ter
ENST00000484087.5:c.640C>T	ENSP00000419481.1:p.Arg214Ter
ENST00000487825.5:c.643C>T	ENSP00000418212.1:p.Arg215Ter
ENST00000491747.6:c.1018C>T	ENSP00000420705.2:p.Arg340Ter
ENST00000493795.5:c.4186C>T	ENSP00000418775.1:p.Arg1396Ter
ENST00000493919.5:c.877C>T	ENSP00000418819.1:p.Arg293Ter
ENST00000586385.5:c.5-18483C>T	ENSP00000465818.1:n.5-18483C>T
ENST00000591534.5:c.-43-7913C>T	ENSP00000467329.1:n.-43-7913C>T
ENST00000591849.5:c.-98-32244C>T	ENSP00000465347.1:n.-98-32244C>T
ENST00000621897.1:n.221C>T
NM_007294.3:c.4327C>T , LRG_292t1:c.4327C>T	NP_009225.1:p.Arg1443Ter
NM_007297.3:c.4186C>T	NP_009228.2:p.Arg1396Ter
NM_007298.3:c.1018C>T	NP_009229.2:p.Arg340Ter
NM_007299.3:c.1018C>T	NP_009230.2:p.Arg340Ter
NM_007300.3:c.4327C>T	NP_009231.2:p.Arg1443Ter
NR_027676.1:n.4463C>T
NM_007294.4:c.4327C>T MANE Select	NP_009225.1:p.Arg1443Ter
NM_007297.4:c.4186C>T	NP_009228.2:p.Arg1396Ter
NM_007299.4:c.1018C>T	NP_009230.2:p.Arg340Ter
NM_007300.4:c.4327C>T	NP_009231.2:p.Arg1443Ter
NR_027676.2:n.4504C>T