Canonical Allele Identifier: CA1081786674

Gene: CDKL3

Linked Data

• dbSNP Id: rs1758359536
• gnomAD v3: 5-134371138-C-T
• gnomAD v4: 5-134371138-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371138C>T , CM000667.2:g.134371138C>T	GRCh38
NC_000005.9:g.133706829C>T , CM000667.1:g.133706829C>T	GRCh37
NC_000005.8:g.133734728C>T	NCBI36
NG_042179.2:g.4910G>A
NG_046936.1:g.4963C>T

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+260G>A	XP_011541743.1:n.-224+260G>A
XM_017009544.2:c.-772G>A	XP_016865033.1:n.-772G>A
XM_017009545.2:c.-577G>A	XP_016865034.1:n.-577G>A
XM_024446086.1:c.-162G>A	XP_024301854.1:n.-162G>A
XM_024446093.1:c.227+260G>A	XP_024301861.1:n.227+260G>A
XM_024446096.1:c.-543G>A	XP_024301864.1:n.-543G>A
XM_024446097.1:c.-564G>A	XP_024301865.1:n.-564G>A
XM_024446099.1:c.-439+260G>A	XP_024301867.1:n.-439+260G>A
XM_024446100.1:c.-364G>A	XP_024301868.1:n.-364G>A
XM_024446101.1:c.-154G>A	XP_024301869.1:n.-154G>A
XM_024446103.1:c.-364G>A	XP_024301871.1:n.-364G>A