Canonical Allele Identifier: CA10015529
Gene: CBR1 HGNC NCBI
SETD4 HGNC NCBI
CBR1-AS1 HGNC NCBI
COSMIC:
COSM4417786 (not active)
MyVariant.info:
GRCh38 chr21:g.36072675C>T
GRCh37 chr21:g.37444973C>T
gnomAD v2:
21:37444973 C / T
gnomAD v3:
21:36072675 C / T
gnomAD v4:
chr21-36072675-C-T
Joint Max Group AF 0.23479153 (EAS)
Genomes Max Group AF 0.20473557 (EAS)
Exomes Max Group AF 0.23755517 (EAS)
dbSNP:
20572
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.36072675C>T , CM000683.2:g.36072675C>T GRCh38
NC_000021.8:g.37444973C>T , CM000683.1:g.37444973C>T GRCh37
NC_000021.7:g.36366843C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000290349.11:c.627C>T (CBR1) MANE Select ENSP00000290349.6:p.Ala209=
ENST00000290349.10:c.627C>T (CBR1) ENSP00000290349.6:p.Ala209=
ENST00000399201.5:c.-203+6630G>A (SETD4) ENSP00000382152.1:n.-203+6630G>A
ENST00000530908.5:c.*736C>T (CBR1) ENSP00000434613.1:n.*736C>T
NM_001286789.1:c.*736C>T (CBR1) NP_001273718.1:n.*736C>T
NM_001757.3:c.627C>T (CBR1) NP_001748.1:p.Ala209=
NR_040084.1:n.378-2190G>A (CBR1-AS1)
NM_001757.4:c.627C>T (CBR1) MANE Select NP_001748.1:p.Ala209=
NM_001286789.2:c.*736C>T (CBR1) NP_001273718.1:n.*736C>T
Search 100 bp 5'
Search 100 bp 3'