Linked Data
ClinVar Variation Id:
99010
ClinVar RCV Id:
RCV000085352
dbSNP Id:
rs281865364
gnomAD v3:
X-18642041-C-T
gnomAD v4:
X-18642041-C-T
COSMIC:
COSM263460
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18642041C>T , CM000685.2:g.18642041C>T | GRCh38 |
| NC_000023.10:g.18660161C>T , CM000685.1:g.18660161C>T | GRCh37 |
| NC_000023.9:g.18570082C>T | NCBI36 |
| NG_008475.1:g.221437C>T | |
| NG_008659.3:g.40408G>A , LRG_702:g.40408G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.638G>A (RS1) MANE Select | ENSP00000369320.3:p.Arg213Gln | |
| ENST00000379984.3:c.638G>A (RS1) | ENSP00000369320.3:p.Arg213Gln | |
| ENST00000379989.6:c.2714-3966C>T (CDKL5) | ENSP00000369325.3:n.2714-3966C>T | |
| ENST00000379996.7:c.2714-3966C>T (CDKL5) | ENSP00000369332.3:n.2714-3966C>T | |
| ENST00000476595.1:n.1129G>A (RS1) | ||
| NM_000330.3:c.638G>A , LRG_702t1:c.638G>A (RS1) | NP_000321.1:p.Arg213Gln | |
| NM_001037343.1:c.2714-3966C>T (CDKL5) | NP_001032420.1:n.2714-3966C>T | |
| NM_003159.2:c.2714-3966C>T (CDKL5) | NP_003150.1:n.2714-3966C>T | |
| XM_011545569.1:c.2786-3966C>T (CDKL5) | XP_011543871.1:n.2786-3966C>T | |
| XM_011545570.1:c.2705-3966C>T (CDKL5) | XP_011543872.1:n.2705-3966C>T | |
| XR_950484.1:n.3089-3966C>T (CDKL5) | ||
| NM_000330.4:c.638G>A (RS1) MANE Select | NP_000321.1:p.Arg213Gln | |
| NM_001037343.2:c.2714-3966C>T (CDKL5) | NP_001032420.1:n.2714-3966C>T | |
| NM_003159.3:c.2714-3966C>T (CDKL5) | NP_003150.1:n.2714-3966C>T |