Canonical Allele Identifier: CA2387836295

Gene: CBR1 SETD4 CBR1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36073015G>C , CM000683.2:g.36073015G>C	GRCh38
NC_000021.8:g.37445313G>C , CM000683.1:g.37445313G>C	GRCh37
NC_000021.7:g.36367183G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001757.4:c.*133G>C (CBR1) MANE Select	NP_001748.1:n.*133G>C
ENST00000290349.11:c.*133G>C (CBR1) MANE Select	ENSP00000290349.6:n.*133G>C
NM_001286789.1:c.*1076G>C (CBR1)	NP_001273718.1:n.*1076G>C
NM_001286789.2:c.*1076G>C (CBR1)	NP_001273718.1:n.*1076G>C
NM_001757.3:c.*133G>C (CBR1)	NP_001748.1:n.*133G>C
NR_040084.1:n.377+1866C>G (CBR1-AS1)
ENST00000290349.10:c.*133G>C (CBR1)	ENSP00000290349.6:n.*133G>C
ENST00000399201.5:c.-203+6290C>G (SETD4)	ENSP00000382152.1:n.-203+6290C>G
ENST00000530908.5:c.*1076G>C (CBR1)	ENSP00000434613.1:n.*1076G>C