Canonical Allele Identifier: CA003940

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55738
• ClinVar RCV Id: RCV000217707 ; RCV000238750 ; RCV000484760 ; RCV001804784
• dbSNP Id: rs397509330
• MyVariant Identifiers: chr17:g.41246698G>A (hg19) ; chr17:g.43094681G>A (hg38)
• PubMed: PMID:18092194 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094681G>A , CM000679.2:g.43094681G>A	GRCh38
NC_000017.10:g.41246698G>A , CM000679.1:g.41246698G>A	GRCh37
NC_000017.9:g.38500224G>A	NCBI36
NG_005905.2:g.123303C>T , LRG_292:g.123303C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.914C>T
ENST00000461574.2:c.850C>T	ENSP00000417241.2:p.Gln284Ter
ENST00000470026.6:c.850C>T	ENSP00000419274.2:p.Gln284Ter
ENST00000473961.6:c.724C>T	ENSP00000420201.2:p.Gln242Ter
ENST00000476777.6:c.847C>T	ENSP00000417554.2:p.Gln283Ter
ENST00000477152.6:c.772C>T	ENSP00000419988.2:p.Gln258Ter
ENST00000478531.6:c.784+63C>T	ENSP00000420412.2:n.784+63C>T
ENST00000489037.2:c.772C>T	ENSP00000420781.2:p.Gln258Ter
ENST00000493919.6:c.646+63C>T	ENSP00000418819.2:n.646+63C>T
ENST00000494123.6:c.850C>T	ENSP00000419103.2:p.Gln284Ter
ENST00000497488.2:c.-39C>T	ENSP00000418986.2:n.-39C>T
ENST00000618469.2:c.850C>T	ENSP00000478114.2:p.Gln284Ter
ENST00000634433.2:c.727C>T	ENSP00000489431.2:p.Gln243Ter
ENST00000644379.2:c.850C>T	ENSP00000496570.2:p.Gln284Ter
ENST00000644555.2:c.646+63C>T	ENSP00000494614.2:n.646+63C>T
ENST00000652672.2:c.709C>T	ENSP00000498906.2:p.Gln237Ter
ENST00000484087.6:c.664+63C>T	ENSP00000419481.2:n.664+63C>T
ENST00000700182.1:c.706+63C>T	ENSP00000514849.1:n.706+63C>T
ENST00000700183.1:c.*858C>T	ENSP00000514850.1:n.*858C>T
ENST00000357654.9:c.850C>T MANE Select	ENSP00000350283.3:p.Gln284Ter
ENST00000471181.7:c.850C>T	ENSP00000418960.2:p.Gln284Ter
ENST00000642945.1:c.*724C>T	ENSP00000495897.1:n.*724C>T
ENST00000652672.1:c.709C>T	ENSP00000498906.1:p.Gln237Ter
ENST00000352993.7:c.670+1165C>T	ENSP00000312236.5:n.670+1165C>T
ENST00000354071.7:c.850C>T	ENSP00000326002.7:p.Gln284Ter
ENST00000357654.7:c.850C>T	ENSP00000350283.3:p.Gln284Ter
ENST00000412061.3:c.201C>T
ENST00000461221.5:c.*633C>T	ENSP00000418548.1:n.*633C>T
ENST00000468300.5:c.787+63C>T	ENSP00000417148.1:n.787+63C>T
ENST00000470026.5:c.850C>T	ENSP00000419274.1:p.Gln284Ter
ENST00000471181.6:c.850C>T	ENSP00000418960.2:p.Gln284Ter
ENST00000473961.5:c.447C>T
ENST00000477152.5:c.772C>T	ENSP00000419988.1:p.Gln258Ter
ENST00000478531.5:c.784+63C>T	ENSP00000420412.1:n.784+63C>T
ENST00000484087.5:c.409+63C>T	ENSP00000419481.1:n.409+63C>T
ENST00000487825.5:c.412+63C>T	ENSP00000418212.1:n.412+63C>T
ENST00000491747.6:c.787+63C>T	ENSP00000420705.2:n.787+63C>T
ENST00000492859.5:c.*786C>T	ENSP00000420253.1:n.*786C>T
ENST00000493795.5:c.709C>T	ENSP00000418775.1:p.Gln237Ter
ENST00000493919.5:c.646+63C>T	ENSP00000418819.1:n.646+63C>T
ENST00000494123.5:c.850C>T	ENSP00000419103.1:p.Gln284Ter
ENST00000497488.1:c.-39C>T	ENSP00000418986.1:n.-39C>T
ENST00000586385.5:c.4+30501C>T	ENSP00000465818.1:n.4+30501C>T
ENST00000591534.5:c.-43-20160C>T	ENSP00000467329.1:n.-43-20160C>T
ENST00000591849.5:c.-99+30590C>T	ENSP00000465347.1:n.-99+30590C>T
ENST00000634433.1:c.727C>T	ENSP00000489431.1:p.Gln243Ter
NM_007294.3:c.850C>T , LRG_292t1:c.850C>T	NP_009225.1:p.Gln284Ter
NM_007297.3:c.709C>T	NP_009228.2:p.Gln237Ter
NM_007298.3:c.787+63C>T	NP_009229.2:n.787+63C>T
NM_007299.3:c.787+63C>T	NP_009230.2:n.787+63C>T
NM_007300.3:c.850C>T	NP_009231.2:p.Gln284Ter
NR_027676.1:n.986C>T
NM_007294.4:c.850C>T MANE Select	NP_009225.1:p.Gln284Ter
NM_007297.4:c.709C>T	NP_009228.2:p.Gln237Ter
NM_007299.4:c.787+63C>T	NP_009230.2:n.787+63C>T
NM_007300.4:c.850C>T	NP_009231.2:p.Gln284Ter
NR_027676.2:n.1027C>T