Canonical Allele Identifier: CA412359962
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 533387
ClinVar RCV Id: RCV000640486
dbSNP Id: rs1555951984
gnomAD v4: X-18604137-C-G
MyVariant Identifiers: chrX:g.18622257C>G (hg19) chrX:g.18604137C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604137C>G , CM000685.2:g.18604137C>G GRCh38
NC_000023.10:g.18622257C>G , CM000685.1:g.18622257C>G GRCh37
NC_000023.9:g.18532178C>G NCBI36
NG_008475.1:g.183533C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1213C>G MANE Select ENSP00000485244.1:p.Leu405Val
ENST00000635828.1:c.1213C>G ENSP00000490170.1:p.Leu405Val
ENST00000637881.1:c.1213C>G ENSP00000489879.1:p.Leu405Val
ENST00000674046.1:c.1213C>G ENSP00000501174.1:p.Leu405Val
ENST00000379989.6:c.1213C>G ENSP00000369325.3:p.Leu405Val
ENST00000379996.7:c.1213C>G ENSP00000369332.3:p.Leu405Val
ENST00000463994.4:c.1213C>G ENSP00000485184.1:p.Leu405Val
ENST00000623535.1:c.1213C>G ENSP00000485244.1:p.Leu405Val
NM_001037343.1:c.1213C>G NP_001032420.1:p.Leu405Val
NM_003159.2:c.1213C>G NP_003150.1:p.Leu405Val
XM_011545569.1:c.1162C>G XP_011543871.1:p.Leu388Val
XM_011545570.1:c.1081C>G XP_011543872.1:p.Leu361Val
XR_950484.1:n.1465C>G
NM_001323289.1:c.1213C>G NP_001310218.1:p.Leu405Val
NM_001323289.2:c.1213C>G MANE Select NP_001310218.1:p.Leu405Val
NM_001037343.2:c.1213C>G NP_001032420.1:p.Leu405Val
NM_003159.3:c.1213C>G NP_003150.1:p.Leu405Val
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