Canonical Allele Identifier: CA1081786658

Gene: CDKL3

Linked Data

• dbSNP Id: rs1758356287
• gnomAD v3: 5-134371110-C-T
• gnomAD v4: 5-134371110-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371110C>T , CM000667.2:g.134371110C>T	GRCh38
NC_000005.9:g.133706801C>T , CM000667.1:g.133706801C>T	GRCh37
NC_000005.8:g.133734700C>T	NCBI36
NG_042179.2:g.4938G>A
NG_046936.1:g.4935C>T

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+288G>A	XP_011541743.1:n.-224+288G>A
XM_017009544.2:c.-744G>A	XP_016865033.1:n.-744G>A
XM_017009545.2:c.-549G>A	XP_016865034.1:n.-549G>A
XM_024446086.1:c.-134G>A	XP_024301854.1:n.-134G>A
XM_024446093.1:c.227+288G>A	XP_024301861.1:n.227+288G>A
XM_024446096.1:c.-515G>A	XP_024301864.1:n.-515G>A
XM_024446097.1:c.-536G>A	XP_024301865.1:n.-536G>A
XM_024446099.1:c.-439+288G>A	XP_024301867.1:n.-439+288G>A
XM_024446100.1:c.-336G>A	XP_024301868.1:n.-336G>A
XM_024446101.1:c.-126G>A	XP_024301869.1:n.-126G>A
XM_024446103.1:c.-336G>A	XP_024301871.1:n.-336G>A