Canonical Allele Identifier: CA412368244

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 2923556
• ClinVar RCV Id: RCV003783114
• MyVariant Identifiers: chrX:g.18646700G>T (hg19) ; chrX:g.18628580G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628580G>T , CM000685.2:g.18628580G>T	GRCh38
NC_000023.10:g.18646700G>T , CM000685.1:g.18646700G>T	GRCh37
NC_000023.9:g.18556621G>T	NCBI36
NG_008475.1:g.207976G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2706G>T MANE Select	ENSP00000485244.1:p.Gln902His
ENST00000674046.1:c.2829G>T	ENSP00000501174.1:p.Gln943His
ENST00000379989.6:c.2706G>T	ENSP00000369325.3:p.Gln902His
ENST00000379996.7:c.2706G>T	ENSP00000369332.3:p.Gln902His
ENST00000623535.1:c.2706G>T	ENSP00000485244.1:p.Gln902His
NM_001037343.1:c.2706G>T	NP_001032420.1:p.Gln902His
NM_003159.2:c.2706G>T	NP_003150.1:p.Gln902His
XM_011545569.1:c.2778G>T	XP_011543871.1:p.Gln926His
XM_011545570.1:c.2697G>T	XP_011543872.1:p.Gln899His
XR_950484.1:n.3081G>T
NM_001323289.1:c.2706G>T	NP_001310218.1:p.Gln902His
NM_001323289.2:c.2706G>T MANE Select	NP_001310218.1:p.Gln902His
NM_001037343.2:c.2706G>T	NP_001032420.1:p.Gln902His
NM_003159.3:c.2706G>T	NP_003150.1:p.Gln902His