Canonical Allele Identifier: CA515470569

Gene: CDKL5

Linked Data

• dbSNP Id: rs1927135956
• gnomAD v3: X-18628406-T-C
• gnomAD v4: X-18628406-T-C
• MyVariant Identifiers: chrX:g.18646526T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628406T>C , CM000685.2:g.18628406T>C	GRCh38
NC_000023.10:g.18646526T>C , CM000685.1:g.18646526T>C	GRCh37
NC_000023.9:g.18556447T>C	NCBI36
NG_008475.1:g.207802T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2532T>C MANE Select	ENSP00000485244.1:p.His844=
ENST00000674046.1:c.2655T>C	ENSP00000501174.1:p.His885=
ENST00000379989.6:c.2532T>C	ENSP00000369325.3:p.His844=
ENST00000379996.7:c.2532T>C	ENSP00000369332.3:p.His844=
ENST00000623535.1:c.2532T>C	ENSP00000485244.1:p.His844=
NM_001037343.1:c.2532T>C	NP_001032420.1:p.His844=
NM_003159.2:c.2532T>C	NP_003150.1:p.His844=
XM_011545569.1:c.2604T>C	XP_011543871.1:p.His868=
XM_011545570.1:c.2523T>C	XP_011543872.1:p.His841=
XR_950484.1:n.2907T>C
NM_001323289.1:c.2532T>C	NP_001310218.1:p.His844=
NM_001323289.2:c.2532T>C MANE Select	NP_001310218.1:p.His844=
NM_001037343.2:c.2532T>C	NP_001032420.1:p.His844=
NM_003159.3:c.2532T>C	NP_003150.1:p.His844=