Canonical Allele Identifier: CA14906539
Gene: CBR1 HGNC NCBI
SETD4 HGNC NCBI
CBR1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.36073015G>A
GRCh37 chr21:g.37445313G>A
gnomAD v2:
21:37445313 G / A
gnomAD v3:
21:36073015 G / A
gnomAD v4:
chr21-36073015-G-A
Joint Max Group AF 0.24388304 (EAS)
Genomes Max Group AF 0.20513495 (EAS)
Exomes Max Group AF 0.24917021 (EAS)
dbSNP:
9024
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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
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