Canonical Allele Identifier: CA147633
ClinGen Classification:
ClinVar Variation:
COSMIC:
gnomAD v4:
MyVariant.info:

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=