Canonical Allele Identifier: CA1081786660

Gene: CDKL3

Linked Data

• dbSNP Id: rs1758356492
• gnomAD v3: 5-134371111-A-G
• gnomAD v4: 5-134371111-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371111A>G , CM000667.2:g.134371111A>G	GRCh38
NC_000005.9:g.133706802A>G , CM000667.1:g.133706802A>G	GRCh37
NC_000005.8:g.133734701A>G	NCBI36
NG_042179.2:g.4937T>C
NG_046936.1:g.4936A>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+287T>C	XP_011541743.1:n.-224+287T>C
XM_017009544.2:c.-745T>C	XP_016865033.1:n.-745T>C
XM_017009545.2:c.-550T>C	XP_016865034.1:n.-550T>C
XM_024446086.1:c.-135T>C	XP_024301854.1:n.-135T>C
XM_024446093.1:c.227+287T>C	XP_024301861.1:n.227+287T>C
XM_024446096.1:c.-516T>C	XP_024301864.1:n.-516T>C
XM_024446097.1:c.-537T>C	XP_024301865.1:n.-537T>C
XM_024446099.1:c.-439+287T>C	XP_024301867.1:n.-439+287T>C
XM_024446100.1:c.-337T>C	XP_024301868.1:n.-337T>C
XM_024446101.1:c.-127T>C	XP_024301869.1:n.-127T>C
XM_024446103.1:c.-337T>C	XP_024301871.1:n.-337T>C