Canonical Allele Identifier: CA003621

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125854
• ClinVar RCV Id: RCV000112664 ; RCV000774926 ; RCV002514561
• dbSNP Id: rs80358176
• gnomAD v4: 17-43045819-C-T
• MyVariant Identifiers: chr17:g.41197836C>T (hg19) ; chr17:g.43045819C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045819C>T , CM000679.2:g.43045819C>T	GRCh38
NC_000017.10:g.41197836C>T , CM000679.1:g.41197836C>T	GRCh37
NC_000017.9:g.38451362C>T	NCBI36
NG_005905.2:g.172165G>A , LRG_292:g.172165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5465-17G>A	ENSP00000417241.2:n.5465-17G>A
ENST00000470026.6:c.5468-17G>A	ENSP00000419274.2:n.5468-17G>A
ENST00000473961.6:c.5342-17G>A	ENSP00000420201.2:n.5342-17G>A
ENST00000476777.6:c.5462-17G>A	ENSP00000417554.2:n.5462-17G>A
ENST00000477152.6:c.5390-17G>A	ENSP00000419988.2:n.5390-17G>A
ENST00000478531.6:c.2156-17G>A	ENSP00000420412.2:n.2156-17G>A
ENST00000489037.2:c.5390-17G>A	ENSP00000420781.2:n.5390-17G>A
ENST00000493919.6:c.2018-17G>A	ENSP00000418819.2:n.2018-17G>A
ENST00000494123.6:c.5468-17G>A	ENSP00000419103.2:n.5468-17G>A
ENST00000497488.2:c.4580-17G>A	ENSP00000418986.2:n.4580-17G>A
ENST00000618469.2:c.5468-17G>A	ENSP00000478114.2:n.5468-17G>A
ENST00000634433.2:c.5345-17G>A	ENSP00000489431.2:n.5345-17G>A
ENST00000644379.2:c.5534-17G>A	ENSP00000496570.2:n.5534-17G>A
ENST00000644555.2:c.2018-17G>A	ENSP00000494614.2:n.2018-17G>A
ENST00000652672.2:c.5327-17G>A	ENSP00000498906.2:n.5327-17G>A
ENST00000484087.6:c.2030-17G>A	ENSP00000419481.2:n.2030-17G>A
ENST00000700081.1:n.1351-17G>A
ENST00000700082.1:n.832-17G>A
ENST00000357654.9:c.5468-17G>A MANE Select	ENSP00000350283.3:n.5468-17G>A
ENST00000471181.7:c.5531-17G>A	ENSP00000418960.2:n.5531-17G>A
ENST00000644379.1:c.1855-17G>A
ENST00000352993.7:c.2042-17G>A	ENSP00000312236.5:n.2042-17G>A
ENST00000357654.7:c.5468-17G>A	ENSP00000350283.3:n.5468-17G>A
ENST00000461221.5:c.*5251-17G>A	ENSP00000418548.1:n.*5251-17G>A
ENST00000468300.5:c.2082-17G>A	ENSP00000417148.1:n.2082-17G>A
ENST00000471181.6:c.5531-17G>A	ENSP00000418960.2:n.5531-17G>A
ENST00000491747.6:c.2156-17G>A	ENSP00000420705.2:n.2156-17G>A
ENST00000493795.5:c.5327-17G>A	ENSP00000418775.1:n.5327-17G>A
ENST00000586385.5:c.398-17G>A	ENSP00000465818.1:n.398-17G>A
ENST00000591534.5:c.941-17G>A	ENSP00000467329.1:n.941-17G>A
ENST00000591849.5:c.167-17G>A	ENSP00000465347.1:n.167-17G>A
NM_007294.3:c.5468-17G>A , LRG_292t1:c.5468-17G>A	NP_009225.1:n.5468-17G>A
NM_007297.3:c.5327-17G>A	NP_009228.2:n.5327-17G>A
NM_007298.3:c.2156-17G>A	NP_009229.2:n.2156-17G>A
NM_007299.3:c.2082-17G>A	NP_009230.2:n.2082-17G>A
NM_007300.3:c.5531-17G>A	NP_009231.2:n.5531-17G>A
NR_027676.1:n.5604-17G>A
NM_007294.4:c.5468-17G>A MANE Select	NP_009225.1:n.5468-17G>A
NM_007297.4:c.5327-17G>A	NP_009228.2:n.5327-17G>A
NM_007299.4:c.2082-17G>A	NP_009230.2:n.2082-17G>A
NM_007300.4:c.5531-17G>A	NP_009231.2:n.5531-17G>A
NR_027676.2:n.5645-17G>A