Canonical Allele Identifier: CA002826

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55193
• ClinVar RCV Id: RCV000112333 ; RCV000162985 ; RCV000428966 ; RCV000758827 ; RCV001083013 ; RCV004554677
• dbSNP Id: rs80357022
• ExAC: 17:41228587 T / G
• gnomAD v2: 17-41228587-T-G
• gnomAD v3: 17-43076570-T-G
• gnomAD v4: 17-43076570-T-G
• MyVariant Identifiers: chr17:g.41228587T>G (hg19) ; chr17:g.43076570T>G (hg38)
• PubMed: PMID:10923033 ; PMID:15385441 ; PMID:16267036 ; PMID:17924331 ; PMID:20215541 ; PMID:21990134 ; PMID:22753008 ; PMID:23704879

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076570T>G , CM000679.2:g.43076570T>G	GRCh38
NC_000017.10:g.41228587T>G , CM000679.1:g.41228587T>G	GRCh37
NC_000017.9:g.38482113T>G	NCBI36
NG_005905.2:g.141414A>C , LRG_292:g.141414A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4399A>C	ENSP00000417241.2:p.Asn1467His
ENST00000470026.6:c.4402A>C	ENSP00000419274.2:p.Asn1468His
ENST00000473961.6:c.4276A>C	ENSP00000420201.2:p.Asn1426His
ENST00000476777.6:c.4396A>C	ENSP00000417554.2:p.Asn1466His
ENST00000477152.6:c.4324A>C	ENSP00000419988.2:p.Asn1442His
ENST00000478531.6:c.1090A>C	ENSP00000420412.2:p.Asn364His
ENST00000489037.2:c.4324A>C	ENSP00000420781.2:p.Asn1442His
ENST00000493919.6:c.952A>C	ENSP00000418819.2:p.Asn318His
ENST00000494123.6:c.4402A>C	ENSP00000419103.2:p.Asn1468His
ENST00000497488.2:c.3514A>C	ENSP00000418986.2:p.Asn1172His
ENST00000618469.2:c.4402A>C	ENSP00000478114.2:p.Asn1468His
ENST00000634433.2:c.4279A>C	ENSP00000489431.2:p.Asn1427His
ENST00000644379.2:c.4468A>C	ENSP00000496570.2:p.Asn1490His
ENST00000644555.2:c.952A>C	ENSP00000494614.2:p.Asn318His
ENST00000652672.2:c.4261A>C	ENSP00000498906.2:p.Asn1421His
ENST00000484087.6:c.964A>C	ENSP00000419481.2:p.Asn322His
ENST00000700182.1:c.1009A>C	ENSP00000514849.1:p.Asn337His
ENST00000357654.9:c.4402A>C MANE Select	ENSP00000350283.3:p.Asn1468His
ENST00000471181.7:c.4465A>C	ENSP00000418960.2:p.Asn1489His
ENST00000644379.1:c.789A>C
ENST00000352993.7:c.976A>C	ENSP00000312236.5:p.Asn326His
ENST00000357654.7:c.4402A>C	ENSP00000350283.3:p.Asn1468His
ENST00000461221.5:c.*4185A>C	ENSP00000418548.1:n.*4185A>C
ENST00000461574.1:c.693A>C
ENST00000468300.5:c.1090A>C	ENSP00000417148.1:p.Asn364His
ENST00000471181.6:c.4465A>C	ENSP00000418960.2:p.Asn1489His
ENST00000478531.5:c.1090A>C	ENSP00000420412.1:p.Asn364His
ENST00000484087.5:c.715A>C	ENSP00000419481.1:p.Asn239His
ENST00000487825.5:c.718A>C	ENSP00000418212.1:p.Asn240His
ENST00000491747.6:c.1090A>C	ENSP00000420705.2:p.Asn364His
ENST00000493795.5:c.4261A>C	ENSP00000418775.1:p.Asn1421His
ENST00000493919.5:c.952A>C	ENSP00000418819.1:p.Asn318His
ENST00000586385.5:c.5-12619A>C	ENSP00000465818.1:n.5-12619A>C
ENST00000591534.5:c.-43-2049A>C	ENSP00000467329.1:n.-43-2049A>C
ENST00000591849.5:c.-98-26380A>C	ENSP00000465347.1:n.-98-26380A>C
ENST00000621897.1:n.293A>C
NM_007294.3:c.4402A>C , LRG_292t1:c.4402A>C	NP_009225.1:p.Asn1468His
NM_007297.3:c.4261A>C	NP_009228.2:p.Asn1421His
NM_007298.3:c.1090A>C	NP_009229.2:p.Asn364His
NM_007299.3:c.1090A>C	NP_009230.2:p.Asn364His
NM_007300.3:c.4465A>C	NP_009231.2:p.Asn1489His
NR_027676.1:n.4538A>C
NM_007294.4:c.4402A>C MANE Select	NP_009225.1:p.Asn1468His
NM_007297.4:c.4261A>C	NP_009228.2:p.Asn1421His
NM_007299.4:c.1090A>C	NP_009230.2:p.Asn364His
NM_007300.4:c.4465A>C	NP_009231.2:p.Asn1489His
NR_027676.2:n.4579A>C