Canonical Allele Identifier: CA626075132

Gene: BRCA1

Linked Data

• dbSNP Id: rs572848769
• gnomAD v2: 17-41196981-C-A
• gnomAD v4: 17-43044964-C-A
• MyVariant Identifiers: chr17:g.41196981C>A (hg19) ; chr17:g.43044964C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43044964C>A , CM000679.2:g.43044964C>A	GRCh38
NC_000017.10:g.41196981C>A , CM000679.1:g.41196981C>A	GRCh37
NC_000017.9:g.38450507C>A	NCBI36
NG_005905.2:g.173020G>T , LRG_292:g.173020G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.*714G>T	ENSP00000417241.2:n.*714G>T
ENST00000470026.6:c.*714G>T	ENSP00000419274.2:n.*714G>T
ENST00000473961.6:c.*714G>T	ENSP00000420201.2:n.*714G>T
ENST00000476777.6:c.*714G>T	ENSP00000417554.2:n.*714G>T
ENST00000477152.6:c.*714G>T	ENSP00000419988.2:n.*714G>T
ENST00000478531.6:c.*714G>T	ENSP00000420412.2:n.*714G>T
ENST00000489037.2:c.*714G>T	ENSP00000420781.2:n.*714G>T
ENST00000493919.6:c.*714G>T	ENSP00000418819.2:n.*714G>T
ENST00000494123.6:c.*714G>T	ENSP00000419103.2:n.*714G>T
ENST00000497488.2:c.*714G>T	ENSP00000418986.2:n.*714G>T
ENST00000618469.2:c.*714G>T	ENSP00000478114.2:n.*714G>T
ENST00000634433.2:c.*714G>T	ENSP00000489431.2:n.*714G>T
ENST00000644555.2:c.*714G>T	ENSP00000494614.2:n.*714G>T
ENST00000652672.2:c.*714G>T	ENSP00000498906.2:n.*714G>T
ENST00000700081.1:n.2189G>T
ENST00000357654.9:c.*714G>T MANE Select	ENSP00000350283.3:n.*714G>T
ENST00000471181.7:c.*714G>T	ENSP00000418960.2:n.*714G>T
ENST00000352993.7:c.*714G>T	ENSP00000312236.5:n.*714G>T
ENST00000357654.7:c.*714G>T	ENSP00000350283.3:n.*714G>T
ENST00000468300.5:c.*820G>T	ENSP00000417148.1:n.*820G>T
NM_007294.3:c.*714G>T , LRG_292t1:c.*714G>T	NP_009225.1:n.*714G>T
NM_007297.3:c.*714G>T	NP_009228.2:n.*714G>T
NM_007298.3:c.*714G>T	NP_009229.2:n.*714G>T
NM_007299.3:c.*820G>T	NP_009230.2:n.*820G>T
NM_007300.3:c.*714G>T	NP_009231.2:n.*714G>T
NR_027676.1:n.6442G>T
NM_007294.4:c.*714G>T MANE Select	NP_009225.1:n.*714G>T
NM_007297.4:c.*714G>T	NP_009228.2:n.*714G>T
NM_007299.4:c.*820G>T	NP_009230.2:n.*820G>T
NM_007300.4:c.*714G>T	NP_009231.2:n.*714G>T
NR_027676.2:n.6483G>T