Canonical Allele Identifier: CA002409

Gene: BRCA1

Identifiers and link-outs to other resources

• ClinVar Variation Id: 186252
• ClinVar RCV Id: RCV000165814 ; RCV000203862 ; RCV000411367 ; RCV000759525
• dbSNP Id: rs397509100
• gnomAD: 17:41243790 G / C
• MyVariant Identifiers: chr17:g.41243790G>C (hg19) ; chr17:g.43091773G>C (hg38)
• PubMed: PMID:25036526

User contributed link-outs

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091773G>C , CM000679.2:g.43091773G>C	GRCh38
NC_000017.10:g.41243790G>C , CM000679.1:g.41243790G>C	GRCh37
NC_000017.9:g.38497316G>C	NCBI36
NG_005905.2:g.126211C>G , LRG_292:g.126211C>G

Transcript Alleles

HGVS	Amino-acid change
NM_007294.3:c.3758C>G , LRG_292t1:c.3758C>G	NP_009225.1:p.Ser1253Cys
NM_007297.3:c.3617C>G VV	NP_009228.2:p.Ser1206Cys
NM_007298.3:c.788-741C>G VV	NP_009229.2:p.=
NM_007299.3:c.788-741C>G VV	NP_009230.2:p.=
NM_007300.3:c.3758C>G VV	NP_009231.2:p.Ser1253Cys
NR_027676.1:n.3894C>G
NM_007294.4:c.3758C>G VV MANE Preferred	NP_009225.1:p.Ser1253Cys
NM_007297.4:c.3617C>G VV	NP_009228.2:p.Ser1206Cys
NM_007299.4:c.788-741C>G VV	NP_009230.2:p.=
NM_007300.4:c.3758C>G VV	NP_009231.2:p.Ser1253Cys
NR_027676.2:n.3935C>G
ENST00000352993.7:c.671-741C>G	ENSP00000312236.5:p.=
ENST00000354071.7:c.3758C>G	ENSP00000326002.7:p.Ser1253Cys
ENST00000357654.7:c.3758C>G	ENSP00000350283.3:p.Ser1253Cys
ENST00000461221.5:c.*3541C>G	ENSP00000418548.1:p.=
ENST00000461574.1:n.52C>G
ENST00000468300.5:c.788-741C>G	ENSP00000417148.1:p.=
ENST00000471181.6:c.3758C>G	ENSP00000418960.2:p.Ser1253Cys
ENST00000478531.5:c.785-741C>G	ENSP00000420412.1:p.=
ENST00000484087.5:n.410-741C>G	ENSP00000419481.1:p.=
ENST00000487825.5:n.413-741C>G	ENSP00000418212.1:p.=
ENST00000491747.6:c.788-741C>G	ENSP00000420705.2:p.=
ENST00000493795.5:c.3617C>G	ENSP00000418775.1:p.Ser1206Cys
ENST00000493919.5:c.647-741C>G	ENSP00000418819.1:p.=
ENST00000586385.5:c.5-27822C>G	ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-17252C>G	ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+33498C>G	ENSP00000465347.1:p.=