Canonical Allele Identifier: CA002968

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125725
• ClinVar RCV Id: RCV001271028
• dbSNP Id: rs80358008
• gnomAD v4: 17-43071239-C-T
• COSMIC: COSM436664 ; COSM3675519
• MyVariant Identifiers: chr17:g.41223256C>T (hg19) ; chr17:g.43071239C>T (hg38)
• PubMed: PMID:25452441

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071239C>T , CM000679.2:g.43071239C>T	GRCh38
NC_000017.10:g.41223256C>T , CM000679.1:g.41223256C>T	GRCh37
NC_000017.9:g.38476782C>T	NCBI36
NG_005905.2:g.146745G>A , LRG_292:g.146745G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4673-1G>A	ENSP00000417241.2:n.4673-1G>A
ENST00000470026.6:c.4676-1G>A	ENSP00000419274.2:n.4676-1G>A
ENST00000473961.6:c.4550-1G>A	ENSP00000420201.2:n.4550-1G>A
ENST00000476777.6:c.4670-1G>A	ENSP00000417554.2:n.4670-1G>A
ENST00000477152.6:c.4598-1G>A	ENSP00000419988.2:n.4598-1G>A
ENST00000478531.6:c.1364-1G>A	ENSP00000420412.2:n.1364-1G>A
ENST00000489037.2:c.4598-1G>A	ENSP00000420781.2:n.4598-1G>A
ENST00000493919.6:c.1226-1G>A	ENSP00000418819.2:n.1226-1G>A
ENST00000494123.6:c.4676-1G>A	ENSP00000419103.2:n.4676-1G>A
ENST00000497488.2:c.3788-1G>A	ENSP00000418986.2:n.3788-1G>A
ENST00000618469.2:c.4676-1G>A	ENSP00000478114.2:n.4676-1G>A
ENST00000634433.2:c.4553-1G>A	ENSP00000489431.2:n.4553-1G>A
ENST00000644379.2:c.4742-1G>A	ENSP00000496570.2:n.4742-1G>A
ENST00000644555.2:c.1226-1G>A	ENSP00000494614.2:n.1226-1G>A
ENST00000652672.2:c.4535-1G>A	ENSP00000498906.2:n.4535-1G>A
ENST00000484087.6:c.1238-1G>A	ENSP00000419481.2:n.1238-1G>A
ENST00000700182.1:c.1283-1G>A	ENSP00000514849.1:n.1283-1G>A
ENST00000357654.9:c.4676-1G>A MANE Select	ENSP00000350283.3:n.4676-1G>A
ENST00000471181.7:c.4739-1G>A	ENSP00000418960.2:n.4739-1G>A
ENST00000644379.1:c.1063-1G>A
ENST00000352993.7:c.1250-1G>A	ENSP00000312236.5:n.1250-1G>A
ENST00000357654.7:c.4676-1G>A	ENSP00000350283.3:n.4676-1G>A
ENST00000461221.5:c.*4459-1G>A	ENSP00000418548.1:n.*4459-1G>A
ENST00000468300.5:c.1364-1G>A	ENSP00000417148.1:n.1364-1G>A
ENST00000471181.6:c.4739-1G>A	ENSP00000418960.2:n.4739-1G>A
ENST00000478531.5:c.1364-1G>A	ENSP00000420412.1:n.1364-1G>A
ENST00000484087.5:c.989-1G>A	ENSP00000419481.1:n.989-1G>A
ENST00000491747.6:c.1364-1G>A	ENSP00000420705.2:n.1364-1G>A
ENST00000493795.5:c.4535-1G>A	ENSP00000418775.1:n.4535-1G>A
ENST00000493919.5:c.1226-1G>A	ENSP00000418819.1:n.1226-1G>A
ENST00000586385.5:c.5-7288G>A	ENSP00000465818.1:n.5-7288G>A
ENST00000591534.5:c.149-1G>A	ENSP00000467329.1:n.149-1G>A
ENST00000591849.5:c.-98-21049G>A	ENSP00000465347.1:n.-98-21049G>A
NM_007294.3:c.4676-1G>A , LRG_292t1:c.4676-1G>A	NP_009225.1:n.4676-1G>A
NM_007297.3:c.4535-1G>A	NP_009228.2:n.4535-1G>A
NM_007298.3:c.1364-1G>A	NP_009229.2:n.1364-1G>A
NM_007299.3:c.1364-1G>A	NP_009230.2:n.1364-1G>A
NM_007300.3:c.4739-1G>A	NP_009231.2:n.4739-1G>A
NR_027676.1:n.4812-1G>A
NM_007294.4:c.4676-1G>A MANE Select	NP_009225.1:n.4676-1G>A
NM_007297.4:c.4535-1G>A	NP_009228.2:n.4535-1G>A
NM_007299.4:c.1364-1G>A	NP_009230.2:n.1364-1G>A
NM_007300.4:c.4739-1G>A	NP_009231.2:n.4739-1G>A
NR_027676.2:n.4853-1G>A