Canonical Allele Identifier: CA10593275

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 694279
• ClinVar RCV Id: RCV000855546
• dbSNP Id: rs1597848407
• MyVariant Identifiers: chr17:g.41234554C>G (hg19) ; chr17:g.43082537C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082537C>G , CM000679.2:g.43082537C>G	GRCh38
NC_000017.10:g.41234554C>G , CM000679.1:g.41234554C>G	GRCh37
NC_000017.9:g.38488080C>G	NCBI36
NG_005905.2:g.135447G>C , LRG_292:g.135447G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4224G>C	ENSP00000417241.2:p.Gln1408His
ENST00000470026.6:c.4224G>C	ENSP00000419274.2:p.Gln1408His
ENST00000473961.6:c.4098G>C	ENSP00000420201.2:p.Gln1366His
ENST00000476777.6:c.4218G>C	ENSP00000417554.2:p.Gln1406His
ENST00000477152.6:c.4146G>C	ENSP00000419988.2:p.Gln1382His
ENST00000478531.6:c.912G>C	ENSP00000420412.2:p.Gln304His
ENST00000489037.2:c.4146G>C	ENSP00000420781.2:p.Gln1382His
ENST00000493919.6:c.774G>C	ENSP00000418819.2:p.Gln258His
ENST00000494123.6:c.4224G>C	ENSP00000419103.2:p.Gln1408His
ENST00000497488.2:c.3336G>C	ENSP00000418986.2:p.Gln1112His
ENST00000618469.2:c.4224G>C	ENSP00000478114.2:p.Gln1408His
ENST00000634433.2:c.4101G>C	ENSP00000489431.2:p.Gln1367His
ENST00000644379.2:c.4224G>C	ENSP00000496570.2:p.Gln1408His
ENST00000644555.2:c.774G>C	ENSP00000494614.2:p.Gln258His
ENST00000652672.2:c.4083G>C	ENSP00000498906.2:p.Gln1361His
ENST00000484087.6:c.789G>C	ENSP00000419481.2:p.Gln263His
ENST00000700182.1:c.834G>C	ENSP00000514849.1:p.Gln278His
ENST00000357654.9:c.4224G>C MANE Select	ENSP00000350283.3:p.Gln1408His
ENST00000471181.7:c.4224G>C	ENSP00000418960.2:p.Gln1408His
ENST00000644379.1:c.545G>C
ENST00000352993.7:c.798G>C	ENSP00000312236.5:p.Gln266His
ENST00000357654.7:c.4224G>C	ENSP00000350283.3:p.Gln1408His
ENST00000461221.5:c.*4007G>C	ENSP00000418548.1:n.*4007G>C
ENST00000461574.1:c.518G>C
ENST00000468300.5:c.915G>C	ENSP00000417148.1:p.Gln305His
ENST00000471181.6:c.4224G>C	ENSP00000418960.2:p.Gln1408His
ENST00000478531.5:c.912G>C	ENSP00000420412.1:p.Gln304His
ENST00000484087.5:c.537G>C	ENSP00000419481.1:p.Gln179His
ENST00000487825.5:c.540G>C	ENSP00000418212.1:p.Gln180His
ENST00000491747.6:c.915G>C	ENSP00000420705.2:p.Gln305His
ENST00000493795.5:c.4083G>C	ENSP00000418775.1:p.Gln1361His
ENST00000493919.5:c.774G>C	ENSP00000418819.1:p.Gln258His
ENST00000586385.5:c.5-18586G>C	ENSP00000465818.1:n.5-18586G>C
ENST00000591534.5:c.-43-8016G>C	ENSP00000467329.1:n.-43-8016G>C
ENST00000591849.5:c.-98-32347G>C	ENSP00000465347.1:n.-98-32347G>C
ENST00000621897.1:n.118G>C
NM_007294.3:c.4224G>C , LRG_292t1:c.4224G>C	NP_009225.1:p.Gln1408His
NM_007297.3:c.4083G>C	NP_009228.2:p.Gln1361His
NM_007298.3:c.915G>C	NP_009229.2:p.Gln305His
NM_007299.3:c.915G>C	NP_009230.2:p.Gln305His
NM_007300.3:c.4224G>C	NP_009231.2:p.Gln1408His
NR_027676.1:n.4360G>C
NM_007294.4:c.4224G>C MANE Select	NP_009225.1:p.Gln1408His
NM_007297.4:c.4083G>C	NP_009228.2:p.Gln1361His
NM_007299.4:c.915G>C	NP_009230.2:p.Gln305His
NM_007300.4:c.4224G>C	NP_009231.2:p.Gln1408His
NR_027676.2:n.4401G>C