Revel Score:
ENST00000519285
0.883
ENST00000292427 (MANE Select)
0.883
ENST00000377675
0.883
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002665 (NFE)
Genomes Max Group AF
0.0000117 (NFE)
Exomes Max Group AF
0.00002625 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142875012C>T , CM000670.2:g.142875012C>T | GRCh38 |
| NC_000008.10:g.143956428C>T , CM000670.1:g.143956428C>T | GRCh37 |
| NC_000008.9:g.143953430C>T | NCBI36 |
| NG_007954.1:g.9809G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292427.10:c.1343G>A (CYP11B1) MANE Select | ENSP00000292427.5:p.Arg448His | |
| ENST00000292427.8:c.1343G>A (CYP11B1) | ENSP00000292427.4:p.Arg448His | |
| ENST00000314111.4:n.1595+222G>A (CYP11B1) | ||
| ENST00000377675.3:c.1556G>A (CYP11B1) | ENSP00000366903.3:p.Arg519His | |
| ENST00000517471.5:c.1200+222G>A (CYP11B1) | ENSP00000428043.1:n.1200+222G>A | |
| ENST00000519285.5:c.377G>A (CYP11B1) | ENSP00000430144.1:p.Arg126His | |
| ENST00000522728.5:c.181+33787C>T (GML) | ENSP00000430799.1:n.181+33787C>T | |
| NM_000497.3:c.1343G>A (CYP11B1) | NP_000488.3:p.Arg448His | |
| NM_001026213.1:c.1200+222G>A (CYP11B1) | NP_001021384.1:n.1200+222G>A | |
| XM_011516870.1:c.1490G>A (CYP11B1) | XP_011515172.1:p.Arg497His | |
| XM_011516871.1:c.1421G>A (CYP11B1) | XP_011515173.1:p.Arg474His | |
| XM_011516872.1:c.1412G>A (CYP11B1) | XP_011515174.1:p.Arg471His | |
| XM_011516873.1:c.1490G>A (CYP11B1) | XP_011515175.1:p.Arg497His | |
| XM_011516874.1:c.1421G>A (CYP11B1) | XP_011515176.1:p.Arg474His | |
| XM_011516875.1:c.1229G>A (CYP11B1) | XP_011515177.1:p.Arg410His | |
| XM_011516876.1:c.1347+222G>A (CYP11B1) | XP_011515178.1:n.1347+222G>A | |
| XM_011516970.1:c.214+33787C>T (GML) | XP_011515272.1:n.214+33787C>T | |
| NM_000497.4:c.1343G>A (CYP11B1) MANE Select | NP_000488.3:p.Arg448His |