Canonical Allele Identifier: CA290831768

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1686624
• ClinVar RCV Id: RCV002247137
• dbSNP Id: rs934064952
• gnomAD v2: 17-41226293-T-C
• gnomAD v3: 17-43074276-T-C
• gnomAD v4: 17-43074276-T-C
• MyVariant Identifiers: chr17:g.41226293T>C (hg19) ; chr17:g.43074276T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074276T>C , CM000679.2:g.43074276T>C	GRCh38
NC_000017.10:g.41226293T>C , CM000679.1:g.41226293T>C	GRCh37
NC_000017.9:g.38479819T>C	NCBI36
NG_005905.2:g.143708A>G , LRG_292:g.143708A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4672+55A>G	ENSP00000417241.2:n.4672+55A>G
ENST00000470026.6:c.4675+55A>G	ENSP00000419274.2:n.4675+55A>G
ENST00000473961.6:c.4549+55A>G	ENSP00000420201.2:n.4549+55A>G
ENST00000476777.6:c.4669+55A>G	ENSP00000417554.2:n.4669+55A>G
ENST00000477152.6:c.4597+55A>G	ENSP00000419988.2:n.4597+55A>G
ENST00000478531.6:c.1363+55A>G	ENSP00000420412.2:n.1363+55A>G
ENST00000489037.2:c.4597+55A>G	ENSP00000420781.2:n.4597+55A>G
ENST00000493919.6:c.1225+55A>G	ENSP00000418819.2:n.1225+55A>G
ENST00000494123.6:c.4675+55A>G	ENSP00000419103.2:n.4675+55A>G
ENST00000497488.2:c.3787+55A>G	ENSP00000418986.2:n.3787+55A>G
ENST00000618469.2:c.4675+55A>G	ENSP00000478114.2:n.4675+55A>G
ENST00000634433.2:c.4552+55A>G	ENSP00000489431.2:n.4552+55A>G
ENST00000644379.2:c.4741+55A>G	ENSP00000496570.2:n.4741+55A>G
ENST00000644555.2:c.1225+55A>G	ENSP00000494614.2:n.1225+55A>G
ENST00000652672.2:c.4534+55A>G	ENSP00000498906.2:n.4534+55A>G
ENST00000484087.6:c.1237+55A>G	ENSP00000419481.2:n.1237+55A>G
ENST00000700182.1:c.1282+55A>G	ENSP00000514849.1:n.1282+55A>G
ENST00000357654.9:c.4675+55A>G MANE Select	ENSP00000350283.3:n.4675+55A>G
ENST00000471181.7:c.4738+55A>G	ENSP00000418960.2:n.4738+55A>G
ENST00000644379.1:c.1062+55A>G
ENST00000352993.7:c.1249+55A>G	ENSP00000312236.5:n.1249+55A>G
ENST00000357654.7:c.4675+55A>G	ENSP00000350283.3:n.4675+55A>G
ENST00000461221.5:c.*4458+55A>G	ENSP00000418548.1:n.*4458+55A>G
ENST00000468300.5:c.1363+55A>G	ENSP00000417148.1:n.1363+55A>G
ENST00000471181.6:c.4738+55A>G	ENSP00000418960.2:n.4738+55A>G
ENST00000478531.5:c.1363+55A>G	ENSP00000420412.1:n.1363+55A>G
ENST00000484087.5:c.988+55A>G	ENSP00000419481.1:n.988+55A>G
ENST00000491747.6:c.1363+55A>G	ENSP00000420705.2:n.1363+55A>G
ENST00000493795.5:c.4534+55A>G	ENSP00000418775.1:n.4534+55A>G
ENST00000493919.5:c.1225+55A>G	ENSP00000418819.1:n.1225+55A>G
ENST00000586385.5:c.5-10325A>G	ENSP00000465818.1:n.5-10325A>G
ENST00000591534.5:c.148+55A>G	ENSP00000467329.1:n.148+55A>G
ENST00000591849.5:c.-98-24086A>G	ENSP00000465347.1:n.-98-24086A>G
NM_007294.3:c.4675+55A>G , LRG_292t1:c.4675+55A>G	NP_009225.1:n.4675+55A>G
NM_007297.3:c.4534+55A>G	NP_009228.2:n.4534+55A>G
NM_007298.3:c.1363+55A>G	NP_009229.2:n.1363+55A>G
NM_007299.3:c.1363+55A>G	NP_009230.2:n.1363+55A>G
NM_007300.3:c.4738+55A>G	NP_009231.2:n.4738+55A>G
NR_027676.1:n.4811+55A>G
NM_007294.4:c.4675+55A>G MANE Select	NP_009225.1:n.4675+55A>G
NM_007297.4:c.4534+55A>G	NP_009228.2:n.4534+55A>G
NM_007299.4:c.1363+55A>G	NP_009230.2:n.1363+55A>G
NM_007300.4:c.4738+55A>G	NP_009231.2:n.4738+55A>G
NR_027676.2:n.4852+55A>G