Canonical Allele Identifier: CA650296750

Gene: CDKL3

Linked Data

• dbSNP Id: rs1758350127
• gnomAD v4: 5-134371070-T-C
• COSMIC: COSN9926152

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371070T>C , CM000667.2:g.134371070T>C	GRCh38
NC_000005.9:g.133706761T>C , CM000667.1:g.133706761T>C	GRCh37
NC_000005.8:g.133734660T>C	NCBI36
NG_042179.2:g.4978A>G
NG_046936.1:g.4895T>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011543437.1:c.-475A>G	XP_011541739.1:n.-475A>G
XM_011543438.1:c.-296A>G	XP_011541740.1:n.-296A>G
XM_011543439.1:c.-101A>G	XP_011541741.1:n.-101A>G
XM_011543441.1:c.-224+328A>G	XP_011541743.1:n.-224+328A>G
XM_011543444.1:c.-330A>G	XP_011541746.1:n.-330A>G
XM_011543445.1:c.-279A>G	XP_011541747.1:n.-279A>G
XM_011543447.1:c.-190A>G	XP_011541749.1:n.-190A>G
XM_017009544.2:c.-704A>G	XP_016865033.1:n.-704A>G
XM_017009545.2:c.-509A>G	XP_016865034.1:n.-509A>G
XM_024446086.1:c.-94A>G	XP_024301854.1:n.-94A>G
XM_024446093.1:c.227+328A>G	XP_024301861.1:n.227+328A>G
XM_024446096.1:c.-475A>G	XP_024301864.1:n.-475A>G
XM_024446097.1:c.-496A>G	XP_024301865.1:n.-496A>G
XM_024446099.1:c.-439+328A>G	XP_024301867.1:n.-439+328A>G
XM_024446100.1:c.-296A>G	XP_024301868.1:n.-296A>G
XM_024446101.1:c.-86A>G	XP_024301869.1:n.-86A>G
XM_024446103.1:c.-296A>G	XP_024301871.1:n.-296A>G