Canonical Allele Identifier: CA10590566

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 479210
• ClinVar RCV Id: RCV000565204 ; RCV001077396
• dbSNP Id: rs4438367
• MyVariant Identifiers: chr17:g.41199694C>G (hg19) ; chr17:g.43047677C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047677C>G , CM000679.2:g.43047677C>G	GRCh38
NC_000017.10:g.41199694C>G , CM000679.1:g.41199694C>G	GRCh37
NC_000017.9:g.38453220C>G	NCBI36
NG_005905.2:g.170307G>C , LRG_292:g.170307G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5430G>C	ENSP00000417241.2:p.Gln1810His
ENST00000470026.6:c.5433G>C	ENSP00000419274.2:p.Gln1811His
ENST00000473961.6:c.5307G>C	ENSP00000420201.2:p.Gln1769His
ENST00000476777.6:c.5427G>C	ENSP00000417554.2:p.Gln1809His
ENST00000477152.6:c.5355G>C	ENSP00000419988.2:p.Gln1785His
ENST00000478531.6:c.2121G>C	ENSP00000420412.2:p.Gln707His
ENST00000489037.2:c.5355G>C	ENSP00000420781.2:p.Gln1785His
ENST00000493919.6:c.1983G>C	ENSP00000418819.2:p.Gln661His
ENST00000494123.6:c.5433G>C	ENSP00000419103.2:p.Gln1811His
ENST00000497488.2:c.4545G>C	ENSP00000418986.2:p.Gln1515His
ENST00000618469.2:c.5433G>C	ENSP00000478114.2:p.Gln1811His
ENST00000634433.2:c.5310G>C	ENSP00000489431.2:p.Gln1770His
ENST00000644379.2:c.5499G>C	ENSP00000496570.2:p.Gln1833His
ENST00000644555.2:c.1983G>C	ENSP00000494614.2:p.Gln661His
ENST00000652672.2:c.5292G>C	ENSP00000498906.2:p.Gln1764His
ENST00000484087.6:c.1995G>C	ENSP00000419481.2:p.Gln665His
ENST00000700081.1:n.1316G>C
ENST00000700082.1:n.797G>C
ENST00000357654.9:c.5433G>C MANE Select	ENSP00000350283.3:p.Gln1811His
ENST00000471181.7:c.5496G>C	ENSP00000418960.2:p.Gln1832His
ENST00000644379.1:c.1820G>C
ENST00000352993.7:c.2007G>C	ENSP00000312236.5:p.Gln669His
ENST00000357654.7:c.5433G>C	ENSP00000350283.3:p.Gln1811His
ENST00000461221.5:c.*5216G>C	ENSP00000418548.1:n.*5216G>C
ENST00000468300.5:c.2047G>C	ENSP00000417148.1:p.Ala683Pro
ENST00000471181.6:c.5496G>C	ENSP00000418960.2:p.Gln1832His
ENST00000491747.6:c.2121G>C	ENSP00000420705.2:p.Gln707His
ENST00000493795.5:c.5292G>C	ENSP00000418775.1:p.Gln1764His
ENST00000586385.5:c.363G>C	ENSP00000465818.1:p.Gln121His
ENST00000591534.5:c.906G>C	ENSP00000467329.1:p.Gln302His
ENST00000591849.5:c.132G>C	ENSP00000465347.1:p.Gln44His
NM_007294.3:c.5433G>C , LRG_292t1:c.5433G>C	NP_009225.1:p.Gln1811His
NM_007297.3:c.5292G>C	NP_009228.2:p.Gln1764His
NM_007298.3:c.2121G>C	NP_009229.2:p.Gln707His
NM_007299.3:c.2047G>C	NP_009230.2:p.Ala683Pro
NM_007300.3:c.5496G>C	NP_009231.2:p.Gln1832His
NR_027676.1:n.5569G>C
NM_007294.4:c.5433G>C MANE Select	NP_009225.1:p.Gln1811His
NM_007297.4:c.5292G>C	NP_009228.2:p.Gln1764His
NM_007299.4:c.2047G>C	NP_009230.2:p.Ala683Pro
NM_007300.4:c.5496G>C	NP_009231.2:p.Gln1832His
NR_027676.2:n.5610G>C