Canonical Allele Identifier: CA14906539

Gene: CBR1 SETD4 CBR1-AS1

Linked Data

• dbSNP Id: rs9024
• gnomAD v2: 21-37445313-G-A
• gnomAD v3: 21-36073015-G-A
• gnomAD v4: 21-36073015-G-A
• MyVariant Identifiers: chr21:g.37445313G>A (hg19) ; chr21:g.36073015G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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