Linked Data
ClinVar Variation Id:
210646
dbSNP Id:
rs747799506
ExAC:
X:18668628 G / A
gnomAD v2:
X-18668628-G-A
gnomAD v3:
X-18650508-G-A
gnomAD v4:
X-18650508-G-A
ERepo:
CA209185/MONDO:0100039/016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18650508G>A , CM000685.2:g.18650508G>A | GRCh38 |
| NC_000023.10:g.18668628G>A , CM000685.1:g.18668628G>A | GRCh37 |
| NC_000023.9:g.18578549G>A | NCBI36 |
| NG_008475.1:g.229904G>A | |
| NG_008659.3:g.31941C>T , LRG_702:g.31941C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.185-3176C>T (RS1) MANE Select | ENSP00000369320.3:n.185-3176C>T | |
| ENST00000673617.1:n.168G>A (CDKL5) | ||
| ENST00000379984.3:c.185-3176C>T (RS1) | ENSP00000369320.3:n.185-3176C>T | |
| ENST00000379989.6:c.2896G>A (CDKL5) | ENSP00000369325.3:p.Val966Ile | |
| ENST00000379996.7:c.2896G>A (CDKL5) | ENSP00000369332.3:p.Val966Ile | |
| ENST00000476595.1:n.30C>T (RS1) | ||
| NM_000330.3:c.185-3176C>T , LRG_702t1:c.185-3176C>T (RS1) | NP_000321.1:n.185-3176C>T | |
| NM_001037343.1:c.2896G>A (CDKL5) | NP_001032420.1:p.Val966Ile | |
| NM_003159.2:c.2896G>A (CDKL5) | NP_003150.1:p.Val966Ile | |
| XM_011545569.1:c.2968G>A (CDKL5) | XP_011543871.1:p.Val990Ile | |
| XM_011545570.1:c.2887G>A (CDKL5) | XP_011543872.1:p.Val963Ile | |
| XR_950484.1:n.3271G>A (CDKL5) | ||
| NM_000330.4:c.185-3176C>T (RS1) MANE Select | NP_000321.1:n.185-3176C>T | |
| NM_001037343.2:c.2896G>A (CDKL5) | NP_001032420.1:p.Val966Ile | |
| NM_003159.3:c.2896G>A (CDKL5) | NP_003150.1:p.Val966Ile |