Canonical Allele Identifier: CA294755
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 156685
ClinVar RCV Id: RCV000866522 RCV001704064 RCV002399513
dbSNP Id: rs199897804
ExAC: X:18622765 C / T
gnomAD v2: X-18622765-C-T
gnomAD v3: X-18604645-C-T
gnomAD v4: X-18604645-C-T
MyVariant Identifiers: chrX:g.18622765C>T (hg19) chrX:g.18604645C>T (hg38)
ERepo: CA294755/MONDO:0100039/034
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604645C>T , CM000685.2:g.18604645C>T GRCh38
NC_000023.10:g.18622765C>T , CM000685.1:g.18622765C>T GRCh37
NC_000023.9:g.18532686C>T NCBI36
NG_008475.1:g.184041C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1721C>T MANE Select ENSP00000485244.1:p.Pro574Leu
ENST00000635828.1:c.1721C>T ENSP00000490170.1:p.Pro574Leu
ENST00000674046.1:c.1721C>T ENSP00000501174.1:p.Pro574Leu
ENST00000379989.6:c.1721C>T ENSP00000369325.3:p.Pro574Leu
ENST00000379996.7:c.1721C>T ENSP00000369332.3:p.Pro574Leu
ENST00000463994.4:c.1721C>T ENSP00000485184.1:p.Pro574Leu
ENST00000623535.1:c.1721C>T ENSP00000485244.1:p.Pro574Leu
NM_001037343.1:c.1721C>T NP_001032420.1:p.Pro574Leu
NM_003159.2:c.1721C>T NP_003150.1:p.Pro574Leu
XM_011545569.1:c.1670C>T XP_011543871.1:p.Pro557Leu
XM_011545570.1:c.1589C>T XP_011543872.1:p.Pro530Leu
XR_950484.1:n.1973C>T
NM_001323289.1:c.1721C>T NP_001310218.1:p.Pro574Leu
NM_001323289.2:c.1721C>T MANE Select NP_001310218.1:p.Pro574Leu
NM_001037343.2:c.1721C>T NP_001032420.1:p.Pro574Leu
NM_003159.3:c.1721C>T NP_003150.1:p.Pro574Leu
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