Canonical Allele Identifier: CA412362544
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1254860
ClinVar RCV Id: RCV001659042 RCV003771822
dbSNP Id: rs1378912528
gnomAD v3: X-18604669-C-T
gnomAD v4: X-18604669-C-T
COSMIC: COSM4471851
MyVariant Identifiers: chrX:g.18622789C>T (hg19) chrX:g.18604669C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604669C>T , CM000685.2:g.18604669C>T GRCh38
NC_000023.10:g.18622789C>T , CM000685.1:g.18622789C>T GRCh37
NC_000023.9:g.18532710C>T NCBI36
NG_008475.1:g.184065C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1745C>T MANE Select ENSP00000485244.1:p.Ser582Phe
ENST00000635828.1:c.1745C>T ENSP00000490170.1:p.Ser582Phe
ENST00000674046.1:c.1745C>T ENSP00000501174.1:p.Ser582Phe
ENST00000379989.6:c.1745C>T ENSP00000369325.3:p.Ser582Phe
ENST00000379996.7:c.1745C>T ENSP00000369332.3:p.Ser582Phe
ENST00000463994.4:c.1745C>T ENSP00000485184.1:p.Ser582Phe
ENST00000623535.1:c.1745C>T ENSP00000485244.1:p.Ser582Phe
NM_001037343.1:c.1745C>T NP_001032420.1:p.Ser582Phe
NM_003159.2:c.1745C>T NP_003150.1:p.Ser582Phe
XM_011545569.1:c.1694C>T XP_011543871.1:p.Ser565Phe
XM_011545570.1:c.1613C>T XP_011543872.1:p.Ser538Phe
XR_950484.1:n.1997C>T
NM_001323289.1:c.1745C>T NP_001310218.1:p.Ser582Phe
NM_001323289.2:c.1745C>T MANE Select NP_001310218.1:p.Ser582Phe
NM_001037343.2:c.1745C>T NP_001032420.1:p.Ser582Phe
NM_003159.3:c.1745C>T NP_003150.1:p.Ser582Phe
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