Canonical Allele Identifier: CA1584036635

Gene: CDKL3

Linked Data

• dbSNP Id: rs1758357967
• gnomAD v4: 5-134371121-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371121G>A , CM000667.2:g.134371121G>A	GRCh38
NC_000005.9:g.133706812G>A , CM000667.1:g.133706812G>A	GRCh37
NC_000005.8:g.133734711G>A	NCBI36
NG_042179.2:g.4927C>T
NG_046936.1:g.4946G>A

Transcript Alleles

HGVS	Amino-acid change
XM_011543441.1:c.-224+277C>T	XP_011541743.1:n.-224+277C>T
XM_017009544.2:c.-755C>T	XP_016865033.1:n.-755C>T
XM_017009545.2:c.-560C>T	XP_016865034.1:n.-560C>T
XM_024446086.1:c.-145C>T	XP_024301854.1:n.-145C>T
XM_024446093.1:c.227+277C>T	XP_024301861.1:n.227+277C>T
XM_024446096.1:c.-526C>T	XP_024301864.1:n.-526C>T
XM_024446097.1:c.-547C>T	XP_024301865.1:n.-547C>T
XM_024446099.1:c.-439+277C>T	XP_024301867.1:n.-439+277C>T
XM_024446100.1:c.-347C>T	XP_024301868.1:n.-347C>T
XM_024446101.1:c.-137C>T	XP_024301869.1:n.-137C>T
XM_024446103.1:c.-347C>T	XP_024301871.1:n.-347C>T