Canonical Allele Identifier: CA10360579

Gene: CDKL5

Linked Data

• dbSNP Id: rs753792037
• ExAC: X:18646830 C / G
• gnomAD v2: X-18646830-C-G
• gnomAD v3: X-18628710-C-G
• gnomAD v4: X-18628710-C-G
• MyVariant Identifiers: chrX:g.18646830C>G (hg19) ; chrX:g.18628710C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628710C>G , CM000685.2:g.18628710C>G	GRCh38
NC_000023.10:g.18646830C>G , CM000685.1:g.18646830C>G	GRCh37
NC_000023.9:g.18556751C>G	NCBI36
NG_008475.1:g.208106C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2836C>G MANE Select	ENSP00000485244.1:p.Arg946Gly
ENST00000674046.1:c.2959C>G	ENSP00000501174.1:p.Arg987Gly
ENST00000379989.6:c.2713+123C>G	ENSP00000369325.3:n.2713+123C>G
ENST00000379996.7:c.2713+123C>G	ENSP00000369332.3:n.2713+123C>G
ENST00000623535.1:c.2836C>G	ENSP00000485244.1:p.Arg946Gly
NM_001037343.1:c.2713+123C>G	NP_001032420.1:n.2713+123C>G
NM_003159.2:c.2713+123C>G	NP_003150.1:n.2713+123C>G
XM_011545569.1:c.2785+123C>G	XP_011543871.1:n.2785+123C>G
XM_011545570.1:c.2704+123C>G	XP_011543872.1:n.2704+123C>G
XR_950484.1:n.3088+123C>G
NM_001323289.1:c.2836C>G	NP_001310218.1:p.Arg946Gly
NM_001323289.2:c.2836C>G MANE Select	NP_001310218.1:p.Arg946Gly
NM_001037343.2:c.2713+123C>G	NP_001032420.1:n.2713+123C>G
NM_003159.3:c.2713+123C>G	NP_003150.1:n.2713+123C>G