Canonical Allele Identifier: CA290810792

Gene: BRCA1

Linked Data

• dbSNP Id: rs749910868
• gnomAD v4: 17-43090849-A-C
• MyVariant Identifiers: chr17:g.41242866A>C (hg19) ; chr17:g.43090849A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090849A>C , CM000679.2:g.43090849A>C	GRCh38
NC_000017.10:g.41242866A>C , CM000679.1:g.41242866A>C	GRCh37
NC_000017.9:g.38496392A>C	NCBI36
NG_005905.2:g.127135T>G , LRG_292:g.127135T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4185+95T>G	ENSP00000417241.2:n.4185+95T>G
ENST00000470026.6:c.4185+95T>G	ENSP00000419274.2:n.4185+95T>G
ENST00000473961.6:c.4059+95T>G	ENSP00000420201.2:n.4059+95T>G
ENST00000476777.6:c.4182+95T>G	ENSP00000417554.2:n.4182+95T>G
ENST00000477152.6:c.4107+95T>G	ENSP00000419988.2:n.4107+95T>G
ENST00000478531.6:c.873+95T>G	ENSP00000420412.2:n.873+95T>G
ENST00000489037.2:c.4107+95T>G	ENSP00000420781.2:n.4107+95T>G
ENST00000493919.6:c.735+95T>G	ENSP00000418819.2:n.735+95T>G
ENST00000494123.6:c.4185+95T>G	ENSP00000419103.2:n.4185+95T>G
ENST00000497488.2:c.3297+95T>G	ENSP00000418986.2:n.3297+95T>G
ENST00000618469.2:c.4185+95T>G	ENSP00000478114.2:n.4185+95T>G
ENST00000634433.2:c.4062+95T>G	ENSP00000489431.2:n.4062+95T>G
ENST00000644379.2:c.4185+95T>G	ENSP00000496570.2:n.4185+95T>G
ENST00000644555.2:c.735+95T>G	ENSP00000494614.2:n.735+95T>G
ENST00000652672.2:c.4044+95T>G	ENSP00000498906.2:n.4044+95T>G
ENST00000484087.6:c.753+95T>G	ENSP00000419481.2:n.753+95T>G
ENST00000700182.1:c.795+95T>G	ENSP00000514849.1:n.795+95T>G
ENST00000357654.9:c.4185+95T>G MANE Select	ENSP00000350283.3:n.4185+95T>G
ENST00000471181.7:c.4185+95T>G	ENSP00000418960.2:n.4185+95T>G
ENST00000644379.1:c.506+95T>G
ENST00000352993.7:c.759+95T>G	ENSP00000312236.5:n.759+95T>G
ENST00000357654.7:c.4185+95T>G	ENSP00000350283.3:n.4185+95T>G
ENST00000461221.5:c.*3968+95T>G	ENSP00000418548.1:n.*3968+95T>G
ENST00000461574.1:c.479+95T>G
ENST00000468300.5:c.876+95T>G	ENSP00000417148.1:n.876+95T>G
ENST00000471181.6:c.4185+95T>G	ENSP00000418960.2:n.4185+95T>G
ENST00000478531.5:c.873+95T>G	ENSP00000420412.1:n.873+95T>G
ENST00000484087.5:c.498+95T>G	ENSP00000419481.1:n.498+95T>G
ENST00000487825.5:c.501+95T>G	ENSP00000418212.1:n.501+95T>G
ENST00000491747.6:c.876+95T>G	ENSP00000420705.2:n.876+95T>G
ENST00000493795.5:c.4044+95T>G	ENSP00000418775.1:n.4044+95T>G
ENST00000493919.5:c.735+95T>G	ENSP00000418819.1:n.735+95T>G
ENST00000586385.5:c.5-26898T>G	ENSP00000465818.1:n.5-26898T>G
ENST00000591534.5:c.-43-16328T>G	ENSP00000467329.1:n.-43-16328T>G
ENST00000591849.5:c.-99+34422T>G	ENSP00000465347.1:n.-99+34422T>G
NM_007294.3:c.4185+95T>G , LRG_292t1:c.4185+95T>G	NP_009225.1:n.4185+95T>G
NM_007297.3:c.4044+95T>G	NP_009228.2:n.4044+95T>G
NM_007298.3:c.876+95T>G	NP_009229.2:n.876+95T>G
NM_007299.3:c.876+95T>G	NP_009230.2:n.876+95T>G
NM_007300.3:c.4185+95T>G	NP_009231.2:n.4185+95T>G
NR_027676.1:n.4321+95T>G
NM_007294.4:c.4185+95T>G MANE Select	NP_009225.1:n.4185+95T>G
NM_007297.4:c.4044+95T>G	NP_009228.2:n.4044+95T>G
NM_007299.4:c.876+95T>G	NP_009230.2:n.876+95T>G
NM_007300.4:c.4185+95T>G	NP_009231.2:n.4185+95T>G
NR_027676.2:n.4362+95T>G