Canonical Allele Identifier: CA002840

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 41824
• ClinVar RCV Id: RCV001852698
• dbSNP Id: rs200582930
• gnomAD v4: 17-43076558-G-A
• MyVariant Identifiers: chr17:g.41228575G>A (hg19) ; chr17:g.43076558G>A (hg38)
• PubMed: PMID:22703879

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076558G>A , CM000679.2:g.43076558G>A	GRCh38
NC_000017.10:g.41228575G>A , CM000679.1:g.41228575G>A	GRCh37
NC_000017.9:g.38482101G>A	NCBI36
NG_005905.2:g.141426C>T , LRG_292:g.141426C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4411C>T	ENSP00000417241.2:p.Leu1471Phe
ENST00000470026.6:c.4414C>T	ENSP00000419274.2:p.Leu1472Phe
ENST00000473961.6:c.4288C>T	ENSP00000420201.2:p.Leu1430Phe
ENST00000476777.6:c.4408C>T	ENSP00000417554.2:p.Leu1470Phe
ENST00000477152.6:c.4336C>T	ENSP00000419988.2:p.Leu1446Phe
ENST00000478531.6:c.1102C>T	ENSP00000420412.2:p.Leu368Phe
ENST00000489037.2:c.4336C>T	ENSP00000420781.2:p.Leu1446Phe
ENST00000493919.6:c.964C>T	ENSP00000418819.2:p.Leu322Phe
ENST00000494123.6:c.4414C>T	ENSP00000419103.2:p.Leu1472Phe
ENST00000497488.2:c.3526C>T	ENSP00000418986.2:p.Leu1176Phe
ENST00000618469.2:c.4414C>T	ENSP00000478114.2:p.Leu1472Phe
ENST00000634433.2:c.4291C>T	ENSP00000489431.2:p.Leu1431Phe
ENST00000644379.2:c.4480C>T	ENSP00000496570.2:p.Leu1494Phe
ENST00000644555.2:c.964C>T	ENSP00000494614.2:p.Leu322Phe
ENST00000652672.2:c.4273C>T	ENSP00000498906.2:p.Leu1425Phe
ENST00000484087.6:c.976C>T	ENSP00000419481.2:p.Leu326Phe
ENST00000700182.1:c.1021C>T	ENSP00000514849.1:p.Leu341Phe
ENST00000357654.9:c.4414C>T MANE Select	ENSP00000350283.3:p.Leu1472Phe
ENST00000471181.7:c.4477C>T	ENSP00000418960.2:p.Leu1493Phe
ENST00000644379.1:c.801C>T
ENST00000352993.7:c.988C>T	ENSP00000312236.5:p.Leu330Phe
ENST00000357654.7:c.4414C>T	ENSP00000350283.3:p.Leu1472Phe
ENST00000461221.5:c.*4197C>T	ENSP00000418548.1:n.*4197C>T
ENST00000461574.1:c.705C>T
ENST00000468300.5:c.1102C>T	ENSP00000417148.1:p.Leu368Phe
ENST00000471181.6:c.4477C>T	ENSP00000418960.2:p.Leu1493Phe
ENST00000478531.5:c.1102C>T	ENSP00000420412.1:p.Leu368Phe
ENST00000484087.5:c.727C>T	ENSP00000419481.1:p.Leu243Phe
ENST00000487825.5:c.730C>T	ENSP00000418212.1:p.Leu244Phe
ENST00000491747.6:c.1102C>T	ENSP00000420705.2:p.Leu368Phe
ENST00000493795.5:c.4273C>T	ENSP00000418775.1:p.Leu1425Phe
ENST00000493919.5:c.964C>T	ENSP00000418819.1:p.Leu322Phe
ENST00000586385.5:c.5-12607C>T	ENSP00000465818.1:n.5-12607C>T
ENST00000591534.5:c.-43-2037C>T	ENSP00000467329.1:n.-43-2037C>T
ENST00000591849.5:c.-98-26368C>T	ENSP00000465347.1:n.-98-26368C>T
ENST00000621897.1:n.305C>T
NM_007294.3:c.4414C>T , LRG_292t1:c.4414C>T	NP_009225.1:p.Leu1472Phe
NM_007297.3:c.4273C>T	NP_009228.2:p.Leu1425Phe
NM_007298.3:c.1102C>T	NP_009229.2:p.Leu368Phe
NM_007299.3:c.1102C>T	NP_009230.2:p.Leu368Phe
NM_007300.3:c.4477C>T	NP_009231.2:p.Leu1493Phe
NR_027676.1:n.4550C>T
NM_007294.4:c.4414C>T MANE Select	NP_009225.1:p.Leu1472Phe
NM_007297.4:c.4273C>T	NP_009228.2:p.Leu1425Phe
NM_007299.4:c.1102C>T	NP_009230.2:p.Leu368Phe
NM_007300.4:c.4477C>T	NP_009231.2:p.Leu1493Phe
NR_027676.2:n.4591C>T