Canonical Allele Identifier: CA2675303440

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371134-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371134C>G , CM000667.2:g.134371134C>G	GRCh38
NC_000005.9:g.133706825C>G , CM000667.1:g.133706825C>G	GRCh37
NC_000005.8:g.133734724C>G	NCBI36
NG_042179.2:g.4914G>C
NG_046936.1:g.4959C>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+264G>C	XP_011541743.1:n.-224+264G>C
XM_017009544.2:c.-768G>C	XP_016865033.1:n.-768G>C
XM_017009545.2:c.-573G>C	XP_016865034.1:n.-573G>C
XM_024446086.1:c.-158G>C	XP_024301854.1:n.-158G>C
XM_024446093.1:c.227+264G>C	XP_024301861.1:n.227+264G>C
XM_024446096.1:c.-539G>C	XP_024301864.1:n.-539G>C
XM_024446097.1:c.-560G>C	XP_024301865.1:n.-560G>C
XM_024446099.1:c.-439+264G>C	XP_024301867.1:n.-439+264G>C
XM_024446100.1:c.-360G>C	XP_024301868.1:n.-360G>C
XM_024446101.1:c.-150G>C	XP_024301869.1:n.-150G>C
XM_024446103.1:c.-360G>C	XP_024301871.1:n.-360G>C