Canonical Allele Identifier: CA804153602

Gene: CDKL3

Linked Data

• dbSNP Id: rs897658583
• gnomAD v3: 5-134371122-C-A
• gnomAD v4: 5-134371122-C-A
• MyVariant Identifiers: chr5:g.133706813C>A (hg19) ; chr5:g.134371122C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371122C>A , CM000667.2:g.134371122C>A	GRCh38
NC_000005.9:g.133706813C>A , CM000667.1:g.133706813C>A	GRCh37
NC_000005.8:g.133734712C>A	NCBI36
NG_042179.2:g.4926G>T
NG_046936.1:g.4947C>A

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+276G>T	XP_011541743.1:n.-224+276G>T
XM_017009544.2:c.-756G>T	XP_016865033.1:n.-756G>T
XM_017009545.2:c.-561G>T	XP_016865034.1:n.-561G>T
XM_024446086.1:c.-146G>T	XP_024301854.1:n.-146G>T
XM_024446093.1:c.227+276G>T	XP_024301861.1:n.227+276G>T
XM_024446096.1:c.-527G>T	XP_024301864.1:n.-527G>T
XM_024446097.1:c.-548G>T	XP_024301865.1:n.-548G>T
XM_024446099.1:c.-439+276G>T	XP_024301867.1:n.-439+276G>T
XM_024446100.1:c.-348G>T	XP_024301868.1:n.-348G>T
XM_024446101.1:c.-138G>T	XP_024301869.1:n.-138G>T
XM_024446103.1:c.-348G>T	XP_024301871.1:n.-348G>T