Canonical Allele Identifier: CA412363866

Gene: CDKL5

Linked Data

• gnomAD v4: X-18619947-A-T
• MyVariant Identifiers: chrX:g.18638067A>T (hg19) ; chrX:g.18619947A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619947A>T , CM000685.2:g.18619947A>T	GRCh38
NC_000023.10:g.18638067A>T , CM000685.1:g.18638067A>T	GRCh37
NC_000023.9:g.18547988A>T	NCBI36
NG_008475.1:g.199343A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2357A>T MANE Select	ENSP00000485244.1:p.Lys786Ile
ENST00000635828.1:c.2357A>T	ENSP00000490170.1:p.Lys786Ile
ENST00000674046.1:c.2357A>T	ENSP00000501174.1:p.Lys786Ile
ENST00000379989.6:c.2357A>T	ENSP00000369325.3:p.Lys786Ile
ENST00000379996.7:c.2357A>T	ENSP00000369332.3:p.Lys786Ile
ENST00000623535.1:c.2357A>T	ENSP00000485244.1:p.Lys786Ile
NM_001037343.1:c.2357A>T	NP_001032420.1:p.Lys786Ile
NM_003159.2:c.2357A>T	NP_003150.1:p.Lys786Ile
XM_011545569.1:c.2306A>T	XP_011543871.1:p.Lys769Ile
XM_011545570.1:c.2225A>T	XP_011543872.1:p.Lys742Ile
XR_950484.1:n.2609A>T
NM_001323289.1:c.2357A>T	NP_001310218.1:p.Lys786Ile
NM_001323289.2:c.2357A>T MANE Select	NP_001310218.1:p.Lys786Ile
NM_001037343.2:c.2357A>T	NP_001032420.1:p.Lys786Ile
NM_003159.3:c.2357A>T	NP_003150.1:p.Lys786Ile