Canonical Allele Identifier: CA171635

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 94109
• ClinVar RCV Id: RCV000080070 ; RCV000145536 ; RCV001370652 ; RCV002514406
• dbSNP Id: rs398123694
• ExAC: X:18646647 G / A
• gnomAD v2: X-18646647-G-A
• gnomAD v3: X-18628527-G-A
• gnomAD v4: X-18628527-G-A
• COSMIC: COSM4108470
• MyVariant Identifiers: chrX:g.18646647G>A (hg19) ; chrX:g.18628527G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628527G>A , CM000685.2:g.18628527G>A	GRCh38
NC_000023.10:g.18646647G>A , CM000685.1:g.18646647G>A	GRCh37
NC_000023.9:g.18556568G>A	NCBI36
NG_008475.1:g.207923G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2653G>A MANE Select	ENSP00000485244.1:p.Gly885Arg
ENST00000674046.1:c.2776G>A	ENSP00000501174.1:p.Gly926Arg
ENST00000379989.6:c.2653G>A	ENSP00000369325.3:p.Gly885Arg
ENST00000379996.7:c.2653G>A	ENSP00000369332.3:p.Gly885Arg
ENST00000623535.1:c.2653G>A	ENSP00000485244.1:p.Gly885Arg
NM_001037343.1:c.2653G>A	NP_001032420.1:p.Gly885Arg
NM_003159.2:c.2653G>A	NP_003150.1:p.Gly885Arg
XM_011545569.1:c.2725G>A	XP_011543871.1:p.Gly909Arg
XM_011545570.1:c.2644G>A	XP_011543872.1:p.Gly882Arg
XR_950484.1:n.3028G>A
NM_001323289.1:c.2653G>A	NP_001310218.1:p.Gly885Arg
NM_001323289.2:c.2653G>A MANE Select	NP_001310218.1:p.Gly885Arg
NM_001037343.2:c.2653G>A	NP_001032420.1:p.Gly885Arg
NM_003159.3:c.2653G>A	NP_003150.1:p.Gly885Arg