ClinVar RCV:
ClinVar Variation:
COSMIC:
COSM1118800
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00674779 (MID)
Genomes Max Group AF
0.0038747 (NFE)
Exomes Max Group AF
0.00585075 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18653535G>A , CM000685.2:g.18653535G>A | GRCh38 |
| NC_000023.10:g.18671655G>A , CM000685.1:g.18671655G>A | GRCh37 |
| NC_000023.9:g.18581576G>A | NCBI36 |
| NG_008475.1:g.232931G>A | |
| NG_008659.3:g.28914C>T , LRG_702:g.28914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.184+3118C>T (RS1) MANE Select | ENSP00000369320.3:n.184+3118C>T | |
| ENST00000673617.1:n.356G>A (CDKL5) | ||
| ENST00000379984.3:c.184+3118C>T (RS1) | ENSP00000369320.3:n.184+3118C>T | |
| ENST00000379989.6:c.3084G>A (CDKL5) | ENSP00000369325.3:p.Thr1028= | |
| ENST00000379996.7:c.3084G>A (CDKL5) | ENSP00000369332.3:p.Thr1028= | |
| NM_000330.3:c.184+3118C>T , LRG_702t1:c.184+3118C>T (RS1) | NP_000321.1:n.184+3118C>T | |
| NM_001037343.1:c.3084G>A (CDKL5) | NP_001032420.1:p.Thr1028= | |
| NM_003159.2:c.3084G>A (CDKL5) | NP_003150.1:p.Thr1028= | |
| XM_011545569.1:c.3156G>A (CDKL5) | XP_011543871.1:p.Thr1052= | |
| XM_011545570.1:c.3075G>A (CDKL5) | XP_011543872.1:p.Thr1025= | |
| XR_950484.1:n.3459G>A (CDKL5) | ||
| NM_000330.4:c.184+3118C>T (RS1) MANE Select | NP_000321.1:n.184+3118C>T | |
| NM_001037343.2:c.3084G>A (CDKL5) | NP_001032420.1:p.Thr1028= | |
| NM_003159.3:c.3084G>A (CDKL5) | NP_003150.1:p.Thr1028= |