Canonical Allele Identifier: CA412369121

Gene: CDKL5

Linked Data

• gnomAD v4: X-18628690-A-G
• MyVariant Identifiers: chrX:g.18646810A>G (hg19) ; chrX:g.18628690A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628690A>G , CM000685.2:g.18628690A>G	GRCh38
NC_000023.10:g.18646810A>G , CM000685.1:g.18646810A>G	GRCh37
NC_000023.9:g.18556731A>G	NCBI36
NG_008475.1:g.208086A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2816A>G MANE Select	ENSP00000485244.1:p.His939Arg
ENST00000674046.1:c.2939A>G	ENSP00000501174.1:p.His980Arg
ENST00000379989.6:c.2713+103A>G	ENSP00000369325.3:n.2713+103A>G
ENST00000379996.7:c.2713+103A>G	ENSP00000369332.3:n.2713+103A>G
ENST00000623535.1:c.2816A>G	ENSP00000485244.1:p.His939Arg
NM_001037343.1:c.2713+103A>G	NP_001032420.1:n.2713+103A>G
NM_003159.2:c.2713+103A>G	NP_003150.1:n.2713+103A>G
XM_011545569.1:c.2785+103A>G	XP_011543871.1:n.2785+103A>G
XM_011545570.1:c.2704+103A>G	XP_011543872.1:n.2704+103A>G
XR_950484.1:n.3088+103A>G
NM_001323289.1:c.2816A>G	NP_001310218.1:p.His939Arg
NM_001323289.2:c.2816A>G MANE Select	NP_001310218.1:p.His939Arg
NM_001037343.2:c.2713+103A>G	NP_001032420.1:n.2713+103A>G
NM_003159.3:c.2713+103A>G	NP_003150.1:n.2713+103A>G