COSMIC:
COSN15314904 (not active)
COSN17154093 (not active)
Revel Score:
ENST00000399191
0.123
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23469786 (EAS)
Genomes Max Group AF
0.20424199 (EAS)
Exomes Max Group AF
0.23752888 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36072398C>T , CM000683.2:g.36072398C>T | GRCh38 |
| NC_000021.8:g.37444696C>T , CM000683.1:g.37444696C>T | GRCh37 |
| NC_000021.7:g.36366566C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290349.11:c.398-48C>T (CBR1) MANE Select | ENSP00000290349.6:n.398-48C>T | |
| ENST00000290349.10:c.398-48C>T (CBR1) | ENSP00000290349.6:n.398-48C>T | |
| ENST00000399191.3:c.622C>T (CBR1) | ENSP00000382143.3:p.Arg208Trp | |
| ENST00000399201.5:c.-203+6907G>A (SETD4) | ENSP00000382152.1:n.-203+6907G>A | |
| ENST00000530908.5:c.*459C>T (CBR1) | ENSP00000434613.1:n.*459C>T | |
| NM_001286789.1:c.*459C>T (CBR1) | NP_001273718.1:n.*459C>T | |
| NM_001757.3:c.398-48C>T (CBR1) | NP_001748.1:n.398-48C>T | |
| NR_040084.1:n.378-1913G>A (CBR1-AS1) | ||
| NM_001757.4:c.398-48C>T (CBR1) MANE Select | NP_001748.1:n.398-48C>T | |
| NM_001286789.2:c.*459C>T (CBR1) | NP_001273718.1:n.*459C>T |