Canonical Allele Identifier: CA10590422

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 323421
• ClinVar RCV Id: RCV001800654 ; RCV001850727
• dbSNP Id: rs886052975
• gnomAD v4: 17-43047644-A-G
• MyVariant Identifiers: chr17:g.41199661A>G (hg19) ; chr17:g.43047644A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047644A>G , CM000679.2:g.43047644A>G	GRCh38
NC_000017.10:g.41199661A>G , CM000679.1:g.41199661A>G	GRCh37
NC_000017.9:g.38453187A>G	NCBI36
NG_005905.2:g.170340T>C , LRG_292:g.170340T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5463T>C	ENSP00000417241.2:p.His1821=
ENST00000470026.6:c.5466T>C	ENSP00000419274.2:p.His1822=
ENST00000473961.6:c.5340T>C	ENSP00000420201.2:p.His1780=
ENST00000476777.6:c.5460T>C	ENSP00000417554.2:p.His1820=
ENST00000477152.6:c.5388T>C	ENSP00000419988.2:p.His1796=
ENST00000478531.6:c.2154T>C	ENSP00000420412.2:p.His718=
ENST00000489037.2:c.5388T>C	ENSP00000420781.2:p.His1796=
ENST00000493919.6:c.2016T>C	ENSP00000418819.2:p.His672=
ENST00000494123.6:c.5466T>C	ENSP00000419103.2:p.His1822=
ENST00000497488.2:c.4578T>C	ENSP00000418986.2:p.His1526=
ENST00000618469.2:c.5466T>C	ENSP00000478114.2:p.His1822=
ENST00000634433.2:c.5343T>C	ENSP00000489431.2:p.His1781=
ENST00000644379.2:c.5532T>C	ENSP00000496570.2:p.His1844=
ENST00000644555.2:c.2016T>C	ENSP00000494614.2:p.His672=
ENST00000652672.2:c.5325T>C	ENSP00000498906.2:p.His1775=
ENST00000484087.6:c.2028T>C	ENSP00000419481.2:p.His676=
ENST00000700081.1:n.1349T>C
ENST00000700082.1:n.830T>C
ENST00000357654.9:c.5466T>C MANE Select	ENSP00000350283.3:p.His1822=
ENST00000471181.7:c.5529T>C	ENSP00000418960.2:p.His1843=
ENST00000644379.1:c.1853T>C
ENST00000352993.7:c.2040T>C	ENSP00000312236.5:p.His680=
ENST00000357654.7:c.5466T>C	ENSP00000350283.3:p.His1822=
ENST00000461221.5:c.*5249T>C	ENSP00000418548.1:n.*5249T>C
ENST00000468300.5:c.2080T>C	ENSP00000417148.1:p.Cys694Arg
ENST00000471181.6:c.5529T>C	ENSP00000418960.2:p.His1843=
ENST00000491747.6:c.2154T>C	ENSP00000420705.2:p.His718=
ENST00000493795.5:c.5325T>C	ENSP00000418775.1:p.His1775=
ENST00000586385.5:c.396T>C	ENSP00000465818.1:p.His132=
ENST00000591534.5:c.939T>C	ENSP00000467329.1:p.His313=
ENST00000591849.5:c.165T>C	ENSP00000465347.1:p.His55=
NM_007294.3:c.5466T>C , LRG_292t1:c.5466T>C	NP_009225.1:p.His1822=
NM_007297.3:c.5325T>C	NP_009228.2:p.His1775=
NM_007298.3:c.2154T>C	NP_009229.2:p.His718=
NM_007299.3:c.2080T>C	NP_009230.2:p.Cys694Arg
NM_007300.3:c.5529T>C	NP_009231.2:p.His1843=
NR_027676.1:n.5602T>C
NM_007294.4:c.5466T>C MANE Select	NP_009225.1:p.His1822=
NM_007297.4:c.5325T>C	NP_009228.2:p.His1775=
NM_007299.4:c.2080T>C	NP_009230.2:p.Cys694Arg
NM_007300.4:c.5529T>C	NP_009231.2:p.His1843=
NR_027676.2:n.5643T>C