Canonical Allele Identifier: CA412368978
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2136156
ClinVar RCV Id: RCV003037030

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18628661G>T , CM000685.2:g.18628661G>T GRCh38
NC_000023.10:g.18646781G>T , CM000685.1:g.18646781G>T GRCh37
NC_000023.9:g.18556702G>T NCBI36
NG_008475.1:g.208057G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.2787G>T MANE Select ENSP00000485244.1:p.Gln929His
ENST00000674046.1:c.2910G>T ENSP00000501174.1:p.Gln970His
ENST00000379989.6:c.2713+74G>T ENSP00000369325.3:n.2713+74G>T
ENST00000379996.7:c.2713+74G>T ENSP00000369332.3:n.2713+74G>T
ENST00000623535.1:c.2787G>T ENSP00000485244.1:p.Gln929His
NM_001037343.1:c.2713+74G>T NP_001032420.1:n.2713+74G>T
NM_003159.2:c.2713+74G>T NP_003150.1:n.2713+74G>T
XM_011545569.1:c.2785+74G>T XP_011543871.1:n.2785+74G>T
XM_011545570.1:c.2704+74G>T XP_011543872.1:n.2704+74G>T
XR_950484.1:n.3088+74G>T
NM_001323289.1:c.2787G>T NP_001310218.1:p.Gln929His
NM_001323289.2:c.2787G>T MANE Select NP_001310218.1:p.Gln929His
NM_001037343.2:c.2713+74G>T NP_001032420.1:n.2713+74G>T
NM_003159.3:c.2713+74G>T NP_003150.1:n.2713+74G>T