Canonical Allele Identifier: CA003736

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 185343
• ClinVar RCV Id: RCV000164747 ; RCV000233978 ; RCV000426944 ; RCV000495784 ; RCV001080604
• dbSNP Id: rs774127304
• ExAC: 17:41197701 G / A
• gnomAD v2: 17-41197701-G-A
• gnomAD v3: 17-43045684-G-A
• gnomAD v4: 17-43045684-G-A
• MyVariant Identifiers: chr17:g.41197701G>A (hg19) ; chr17:g.43045684G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045684G>A , CM000679.2:g.43045684G>A	GRCh38
NC_000017.10:g.41197701G>A , CM000679.1:g.41197701G>A	GRCh37
NC_000017.9:g.38451227G>A	NCBI36
NG_005905.2:g.172300C>T , LRG_292:g.172300C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5583C>T	ENSP00000417241.2:p.His1861=
ENST00000470026.6:c.5586C>T	ENSP00000419274.2:p.His1862=
ENST00000473961.6:c.5460C>T	ENSP00000420201.2:p.His1820=
ENST00000476777.6:c.5580C>T	ENSP00000417554.2:p.His1860=
ENST00000477152.6:c.5508C>T	ENSP00000419988.2:p.His1836=
ENST00000478531.6:c.2274C>T	ENSP00000420412.2:p.His758=
ENST00000489037.2:c.5508C>T	ENSP00000420781.2:p.His1836=
ENST00000493919.6:c.2136C>T	ENSP00000418819.2:p.His712=
ENST00000494123.6:c.5586C>T	ENSP00000419103.2:p.His1862=
ENST00000497488.2:c.4698C>T	ENSP00000418986.2:p.His1566=
ENST00000618469.2:c.5586C>T	ENSP00000478114.2:p.His1862=
ENST00000634433.2:c.5463C>T	ENSP00000489431.2:p.His1821=
ENST00000644379.2:c.5652C>T	ENSP00000496570.2:p.His1884=
ENST00000644555.2:c.2136C>T	ENSP00000494614.2:p.His712=
ENST00000652672.2:c.5445C>T	ENSP00000498906.2:p.His1815=
ENST00000484087.6:c.2148C>T	ENSP00000419481.2:p.His716=
ENST00000700081.1:n.1469C>T
ENST00000700082.1:n.950C>T
ENST00000357654.9:c.5586C>T MANE Select	ENSP00000350283.3:p.His1862=
ENST00000471181.7:c.5649C>T	ENSP00000418960.2:p.His1883=
ENST00000644379.1:c.1973C>T
ENST00000352993.7:c.2160C>T	ENSP00000312236.5:p.His720=
ENST00000357654.7:c.5586C>T	ENSP00000350283.3:p.His1862=
ENST00000461221.5:c.*5369C>T	ENSP00000418548.1:n.*5369C>T
ENST00000468300.5:c.*100C>T	ENSP00000417148.1:n.*100C>T
ENST00000471181.6:c.5649C>T	ENSP00000418960.2:p.His1883=
ENST00000491747.6:c.2274C>T	ENSP00000420705.2:p.His758=
ENST00000493795.5:c.5445C>T	ENSP00000418775.1:p.His1815=
ENST00000586385.5:c.516C>T	ENSP00000465818.1:p.His172=
ENST00000591534.5:c.1059C>T	ENSP00000467329.1:p.His353=
ENST00000591849.5:c.285C>T	ENSP00000465347.1:p.His95=
NM_007294.3:c.5586C>T , LRG_292t1:c.5586C>T	NP_009225.1:p.His1862=
NM_007297.3:c.5445C>T	NP_009228.2:p.His1815=
NM_007298.3:c.2274C>T	NP_009229.2:p.His758=
NM_007299.3:c.*100C>T	NP_009230.2:n.*100C>T
NM_007300.3:c.5649C>T	NP_009231.2:p.His1883=
NR_027676.1:n.5722C>T
NM_007294.4:c.5586C>T MANE Select	NP_009225.1:p.His1862=
NM_007297.4:c.5445C>T	NP_009228.2:p.His1815=
NM_007299.4:c.*100C>T	NP_009230.2:n.*100C>T
NM_007300.4:c.5649C>T	NP_009231.2:p.His1883=
NR_027676.2:n.5763C>T