Canonical Allele Identifier: CA2638036078

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43045330-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045330G>A , CM000679.2:g.43045330G>A	GRCh38
NC_000017.10:g.41197347G>A , CM000679.1:g.41197347G>A	GRCh37
NC_000017.9:g.38450873G>A	NCBI36
NG_005905.2:g.172654C>T , LRG_292:g.172654C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.*348C>T	ENSP00000417241.2:n.*348C>T
ENST00000470026.6:c.*348C>T	ENSP00000419274.2:n.*348C>T
ENST00000473961.6:c.*348C>T	ENSP00000420201.2:n.*348C>T
ENST00000476777.6:c.*348C>T	ENSP00000417554.2:n.*348C>T
ENST00000477152.6:c.*348C>T	ENSP00000419988.2:n.*348C>T
ENST00000478531.6:c.*348C>T	ENSP00000420412.2:n.*348C>T
ENST00000489037.2:c.*348C>T	ENSP00000420781.2:n.*348C>T
ENST00000493919.6:c.*348C>T	ENSP00000418819.2:n.*348C>T
ENST00000494123.6:c.*348C>T	ENSP00000419103.2:n.*348C>T
ENST00000497488.2:c.*348C>T	ENSP00000418986.2:n.*348C>T
ENST00000618469.2:c.*348C>T	ENSP00000478114.2:n.*348C>T
ENST00000634433.2:c.*348C>T	ENSP00000489431.2:n.*348C>T
ENST00000644379.2:c.*348C>T	ENSP00000496570.2:n.*348C>T
ENST00000644555.2:c.*348C>T	ENSP00000494614.2:n.*348C>T
ENST00000652672.2:c.*348C>T	ENSP00000498906.2:n.*348C>T
ENST00000700081.1:n.1823C>T
ENST00000700082.1:n.1304C>T
ENST00000357654.9:c.*348C>T MANE Select	ENSP00000350283.3:n.*348C>T
ENST00000471181.7:c.*348C>T	ENSP00000418960.2:n.*348C>T
ENST00000644379.1:c.2327C>T
ENST00000352993.7:c.*348C>T	ENSP00000312236.5:n.*348C>T
ENST00000357654.7:c.*348C>T	ENSP00000350283.3:n.*348C>T
ENST00000468300.5:c.*454C>T	ENSP00000417148.1:n.*454C>T
NM_007294.3:c.*348C>T , LRG_292t1:c.*348C>T	NP_009225.1:n.*348C>T
NM_007297.3:c.*348C>T	NP_009228.2:n.*348C>T
NM_007298.3:c.*348C>T	NP_009229.2:n.*348C>T
NM_007299.3:c.*454C>T	NP_009230.2:n.*454C>T
NM_007300.3:c.*348C>T	NP_009231.2:n.*348C>T
NR_027676.1:n.6076C>T
NM_007294.4:c.*348C>T MANE Select	NP_009225.1:n.*348C>T
NM_007297.4:c.*348C>T	NP_009228.2:n.*348C>T
NM_007299.4:c.*454C>T	NP_009230.2:n.*454C>T
NM_007300.4:c.*348C>T	NP_009231.2:n.*348C>T
NR_027676.2:n.6117C>T