Canonical Allele Identifier: CA446650553

Gene: CDKL3

Linked Data

• dbSNP Id: rs540936361
• gnomAD v3: 5-134371040-T-G
• gnomAD v4: 5-134371040-T-G
• MyVariant Identifiers: chr5:g.133706731T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371040T>G , CM000667.2:g.134371040T>G	GRCh38
NC_000005.9:g.133706731T>G , CM000667.1:g.133706731T>G	GRCh37
NC_000005.8:g.133734630T>G	NCBI36
NG_042179.2:g.5008A>C
NG_046936.1:g.4865T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518409.2:n.5A>C
ENST00000520515.5:n.4A>C
ENST00000703312.1:n.4A>C
ENST00000703313.1:c.-71A>C	ENSP00000515258.1:n.-71A>C
ENST00000519312.5:c.-71A>C	ENSP00000427738.1:n.-71A>C
ENST00000520693.5:c.-71A>C	ENSP00000430777.1:n.-71A>C
ENST00000522501.1:n.4A>C
ENST00000523054.5:c.-445A>C	ENSP00000428500.1:n.-445A>C
NM_001300853.1:c.-445A>C	NP_001287782.1:n.-445A>C
XM_011543437.1:c.-445A>C	XP_011541739.1:n.-445A>C
XM_011543438.1:c.-266A>C	XP_011541740.1:n.-266A>C
XM_011543439.1:c.-71A>C	XP_011541741.1:n.-71A>C
XM_011543441.1:c.-224+358A>C	XP_011541743.1:n.-224+358A>C
XM_011543444.1:c.-300A>C	XP_011541746.1:n.-300A>C
XM_011543445.1:c.-249A>C	XP_011541747.1:n.-249A>C
XM_011543447.1:c.-160A>C	XP_011541749.1:n.-160A>C
NM_001349363.1:c.-71A>C	NP_001336292.1:n.-71A>C
NM_001349364.1:c.-300A>C	NP_001336293.1:n.-300A>C
NM_001349365.1:c.-249A>C	NP_001336294.1:n.-249A>C
NM_001349366.1:c.-160A>C	NP_001336295.1:n.-160A>C
XM_017009544.2:c.-674A>C	XP_016865033.1:n.-674A>C
XM_017009545.2:c.-479A>C	XP_016865034.1:n.-479A>C
XM_024446086.1:c.-64A>C	XP_024301854.1:n.-64A>C
XM_024446093.1:c.227+358A>C	XP_024301861.1:n.227+358A>C
XM_024446096.1:c.-445A>C	XP_024301864.1:n.-445A>C
XM_024446097.1:c.-466A>C	XP_024301865.1:n.-466A>C
XM_024446099.1:c.-439+358A>C	XP_024301867.1:n.-439+358A>C
XM_024446100.1:c.-266A>C	XP_024301868.1:n.-266A>C
XM_024446101.1:c.-56A>C	XP_024301869.1:n.-56A>C
XM_024446103.1:c.-266A>C	XP_024301871.1:n.-266A>C
NM_001300853.2:c.-445A>C	NP_001287782.1:n.-445A>C
NM_001349363.2:c.-71A>C	NP_001336292.1:n.-71A>C
NM_001349364.2:c.-300A>C	NP_001336293.1:n.-300A>C
NM_001349365.2:c.-249A>C	NP_001336294.1:n.-249A>C
NM_001349366.2:c.-160A>C	NP_001336295.1:n.-160A>C