Canonical Allele Identifier: CA003709

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 184500
• ClinVar RCV Id: RCV001534248 ; RCV001731411
• dbSNP Id: rs786201502
• gnomAD v2: 17-41197737-C-G
• gnomAD v4: 17-43045720-C-G
• MyVariant Identifiers: chr17:g.41197737C>G (hg19) ; chr17:g.43045720C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045720C>G , CM000679.2:g.43045720C>G	GRCh38
NC_000017.10:g.41197737C>G , CM000679.1:g.41197737C>G	GRCh37
NC_000017.9:g.38451263C>G	NCBI36
NG_005905.2:g.172264G>C , LRG_292:g.172264G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5547G>C	ENSP00000417241.2:p.Leu1849=
ENST00000470026.6:c.5550G>C	ENSP00000419274.2:p.Leu1850=
ENST00000473961.6:c.5424G>C	ENSP00000420201.2:p.Leu1808=
ENST00000476777.6:c.5544G>C	ENSP00000417554.2:p.Leu1848=
ENST00000477152.6:c.5472G>C	ENSP00000419988.2:p.Leu1824=
ENST00000478531.6:c.2238G>C	ENSP00000420412.2:p.Leu746=
ENST00000489037.2:c.5472G>C	ENSP00000420781.2:p.Leu1824=
ENST00000493919.6:c.2100G>C	ENSP00000418819.2:p.Leu700=
ENST00000494123.6:c.5550G>C	ENSP00000419103.2:p.Leu1850=
ENST00000497488.2:c.4662G>C	ENSP00000418986.2:p.Leu1554=
ENST00000618469.2:c.5550G>C	ENSP00000478114.2:p.Leu1850=
ENST00000634433.2:c.5427G>C	ENSP00000489431.2:p.Leu1809=
ENST00000644379.2:c.5616G>C	ENSP00000496570.2:p.Leu1872=
ENST00000644555.2:c.2100G>C	ENSP00000494614.2:p.Leu700=
ENST00000652672.2:c.5409G>C	ENSP00000498906.2:p.Leu1803=
ENST00000484087.6:c.2112G>C	ENSP00000419481.2:p.Leu704=
ENST00000700081.1:n.1433G>C
ENST00000700082.1:n.914G>C
ENST00000357654.9:c.5550G>C MANE Select	ENSP00000350283.3:p.Leu1850=
ENST00000471181.7:c.5613G>C	ENSP00000418960.2:p.Leu1871=
ENST00000644379.1:c.1937G>C
ENST00000352993.7:c.2124G>C	ENSP00000312236.5:p.Leu708=
ENST00000357654.7:c.5550G>C	ENSP00000350283.3:p.Leu1850=
ENST00000461221.5:c.*5333G>C	ENSP00000418548.1:n.*5333G>C
ENST00000468300.5:c.*64G>C	ENSP00000417148.1:n.*64G>C
ENST00000471181.6:c.5613G>C	ENSP00000418960.2:p.Leu1871=
ENST00000491747.6:c.2238G>C	ENSP00000420705.2:p.Leu746=
ENST00000493795.5:c.5409G>C	ENSP00000418775.1:p.Leu1803=
ENST00000586385.5:c.480G>C	ENSP00000465818.1:p.Leu160=
ENST00000591534.5:c.1023G>C	ENSP00000467329.1:p.Leu341=
ENST00000591849.5:c.249G>C	ENSP00000465347.1:p.Leu83=
NM_007294.3:c.5550G>C , LRG_292t1:c.5550G>C	NP_009225.1:p.Leu1850=
NM_007297.3:c.5409G>C	NP_009228.2:p.Leu1803=
NM_007298.3:c.2238G>C	NP_009229.2:p.Leu746=
NM_007299.3:c.*64G>C	NP_009230.2:n.*64G>C
NM_007300.3:c.5613G>C	NP_009231.2:p.Leu1871=
NR_027676.1:n.5686G>C
NM_007294.4:c.5550G>C MANE Select	NP_009225.1:p.Leu1850=
NM_007297.4:c.5409G>C	NP_009228.2:p.Leu1803=
NM_007299.4:c.*64G>C	NP_009230.2:n.*64G>C
NM_007300.4:c.5613G>C	NP_009231.2:p.Leu1871=
NR_027676.2:n.5727G>C