Canonical Allele Identifier: CA10590234

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 869027
• ClinVar RCV Id: RCV001078052
• dbSNP Id: rs2050865178
• gnomAD v4: 17-43045726-C-A
• MyVariant Identifiers: chr17:g.41197743C>A (hg19) ; chr17:g.43045726C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045726C>A , CM000679.2:g.43045726C>A	GRCh38
NC_000017.10:g.41197743C>A , CM000679.1:g.41197743C>A	GRCh37
NC_000017.9:g.38451269C>A	NCBI36
NG_005905.2:g.172258G>T , LRG_292:g.172258G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5541G>T	ENSP00000417241.2:p.Gln1847His
ENST00000470026.6:c.5544G>T	ENSP00000419274.2:p.Gln1848His
ENST00000473961.6:c.5418G>T	ENSP00000420201.2:p.Gln1806His
ENST00000476777.6:c.5538G>T	ENSP00000417554.2:p.Gln1846His
ENST00000477152.6:c.5466G>T	ENSP00000419988.2:p.Gln1822His
ENST00000478531.6:c.2232G>T	ENSP00000420412.2:p.Gln744His
ENST00000489037.2:c.5466G>T	ENSP00000420781.2:p.Gln1822His
ENST00000493919.6:c.2094G>T	ENSP00000418819.2:p.Gln698His
ENST00000494123.6:c.5544G>T	ENSP00000419103.2:p.Gln1848His
ENST00000497488.2:c.4656G>T	ENSP00000418986.2:p.Gln1552His
ENST00000618469.2:c.5544G>T	ENSP00000478114.2:p.Gln1848His
ENST00000634433.2:c.5421G>T	ENSP00000489431.2:p.Gln1807His
ENST00000644379.2:c.5610G>T	ENSP00000496570.2:p.Gln1870His
ENST00000644555.2:c.2094G>T	ENSP00000494614.2:p.Gln698His
ENST00000652672.2:c.5403G>T	ENSP00000498906.2:p.Gln1801His
ENST00000484087.6:c.2106G>T	ENSP00000419481.2:p.Gln702His
ENST00000700081.1:n.1427G>T
ENST00000700082.1:n.908G>T
ENST00000357654.9:c.5544G>T MANE Select	ENSP00000350283.3:p.Gln1848His
ENST00000471181.7:c.5607G>T	ENSP00000418960.2:p.Gln1869His
ENST00000644379.1:c.1931G>T
ENST00000352993.7:c.2118G>T	ENSP00000312236.5:p.Gln706His
ENST00000357654.7:c.5544G>T	ENSP00000350283.3:p.Gln1848His
ENST00000461221.5:c.*5327G>T	ENSP00000418548.1:n.*5327G>T
ENST00000468300.5:c.*58G>T	ENSP00000417148.1:n.*58G>T
ENST00000471181.6:c.5607G>T	ENSP00000418960.2:p.Gln1869His
ENST00000491747.6:c.2232G>T	ENSP00000420705.2:p.Gln744His
ENST00000493795.5:c.5403G>T	ENSP00000418775.1:p.Gln1801His
ENST00000586385.5:c.474G>T	ENSP00000465818.1:p.Gln158His
ENST00000591534.5:c.1017G>T	ENSP00000467329.1:p.Gln339His
ENST00000591849.5:c.243G>T	ENSP00000465347.1:p.Gln81His
NM_007294.3:c.5544G>T , LRG_292t1:c.5544G>T	NP_009225.1:p.Gln1848His
NM_007297.3:c.5403G>T	NP_009228.2:p.Gln1801His
NM_007298.3:c.2232G>T	NP_009229.2:p.Gln744His
NM_007299.3:c.*58G>T	NP_009230.2:n.*58G>T
NM_007300.3:c.5607G>T	NP_009231.2:p.Gln1869His
NR_027676.1:n.5680G>T
NM_007294.4:c.5544G>T MANE Select	NP_009225.1:p.Gln1848His
NM_007297.4:c.5403G>T	NP_009228.2:p.Gln1801His
NM_007299.4:c.*58G>T	NP_009230.2:n.*58G>T
NM_007300.4:c.5607G>T	NP_009231.2:p.Gln1869His
NR_027676.2:n.5721G>T