Canonical Allele Identifier: CA003629

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 141804
• ClinVar RCV Id: RCV000130459 ; RCV000168345 ; RCV000481196 ; RCV000765356 ; RCV001076289
• dbSNP Id: rs587782026
• gnomAD v4: 17-43045800-T-C
• MyVariant Identifiers: chr17:g.41197817T>C (hg19) ; chr17:g.43045800T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045800T>C , CM000679.2:g.43045800T>C	GRCh38
NC_000017.10:g.41197817T>C , CM000679.1:g.41197817T>C	GRCh37
NC_000017.9:g.38451343T>C	NCBI36
NG_005905.2:g.172184A>G , LRG_292:g.172184A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5467A>G	ENSP00000417241.2:p.Ile1823Val
ENST00000470026.6:c.5470A>G	ENSP00000419274.2:p.Ile1824Val
ENST00000473961.6:c.5344A>G	ENSP00000420201.2:p.Ile1782Val
ENST00000476777.6:c.5464A>G	ENSP00000417554.2:p.Ile1822Val
ENST00000477152.6:c.5392A>G	ENSP00000419988.2:p.Ile1798Val
ENST00000478531.6:c.2158A>G	ENSP00000420412.2:p.Ile720Val
ENST00000489037.2:c.5392A>G	ENSP00000420781.2:p.Ile1798Val
ENST00000493919.6:c.2020A>G	ENSP00000418819.2:p.Ile674Val
ENST00000494123.6:c.5470A>G	ENSP00000419103.2:p.Ile1824Val
ENST00000497488.2:c.4582A>G	ENSP00000418986.2:p.Ile1528Val
ENST00000618469.2:c.5470A>G	ENSP00000478114.2:p.Ile1824Val
ENST00000634433.2:c.5347A>G	ENSP00000489431.2:p.Ile1783Val
ENST00000644379.2:c.5536A>G	ENSP00000496570.2:p.Ile1846Val
ENST00000644555.2:c.2020A>G	ENSP00000494614.2:p.Ile674Val
ENST00000652672.2:c.5329A>G	ENSP00000498906.2:p.Ile1777Val
ENST00000484087.6:c.2032A>G	ENSP00000419481.2:p.Ile678Val
ENST00000700081.1:n.1353A>G
ENST00000700082.1:n.834A>G
ENST00000357654.9:c.5470A>G MANE Select	ENSP00000350283.3:p.Ile1824Val
ENST00000471181.7:c.5533A>G	ENSP00000418960.2:p.Ile1845Val
ENST00000644379.1:c.1857A>G
ENST00000352993.7:c.2044A>G	ENSP00000312236.5:p.Ile682Val
ENST00000357654.7:c.5470A>G	ENSP00000350283.3:p.Ile1824Val
ENST00000461221.5:c.*5253A>G	ENSP00000418548.1:n.*5253A>G
ENST00000468300.5:c.2084A>G	ENSP00000417148.1:p.Asn695Ser
ENST00000471181.6:c.5533A>G	ENSP00000418960.2:p.Ile1845Val
ENST00000491747.6:c.2158A>G	ENSP00000420705.2:p.Ile720Val
ENST00000493795.5:c.5329A>G	ENSP00000418775.1:p.Ile1777Val
ENST00000586385.5:c.400A>G	ENSP00000465818.1:p.Ile134Val
ENST00000591534.5:c.943A>G	ENSP00000467329.1:p.Ile315Val
ENST00000591849.5:c.169A>G	ENSP00000465347.1:p.Ile57Val
NM_007294.3:c.5470A>G , LRG_292t1:c.5470A>G	NP_009225.1:p.Ile1824Val
NM_007297.3:c.5329A>G	NP_009228.2:p.Ile1777Val
NM_007298.3:c.2158A>G	NP_009229.2:p.Ile720Val
NM_007299.3:c.2084A>G	NP_009230.2:p.Asn695Ser
NM_007300.3:c.5533A>G	NP_009231.2:p.Ile1845Val
NR_027676.1:n.5606A>G
NM_007294.4:c.5470A>G MANE Select	NP_009225.1:p.Ile1824Val
NM_007297.4:c.5329A>G	NP_009228.2:p.Ile1777Val
NM_007299.4:c.2084A>G	NP_009230.2:p.Asn695Ser
NM_007300.4:c.5533A>G	NP_009231.2:p.Ile1845Val
NR_027676.2:n.5647A>G