Canonical Allele Identifier: CA327009079

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 2660104
• ClinVar RCV Id: RCV003441093
• dbSNP Id: rs1014339966
• gnomAD v4: X-18628656-G-C
• MyVariant Identifiers: chrX:g.18646776G>C (hg19) ; chrX:g.18628656G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628656G>C , CM000685.2:g.18628656G>C	GRCh38
NC_000023.10:g.18646776G>C , CM000685.1:g.18646776G>C	GRCh37
NC_000023.9:g.18556697G>C	NCBI36
NG_008475.1:g.208052G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2782G>C MANE Select	ENSP00000485244.1:p.Glu928Gln
ENST00000674046.1:c.2905G>C	ENSP00000501174.1:p.Glu969Gln
ENST00000379989.6:c.2713+69G>C	ENSP00000369325.3:n.2713+69G>C
ENST00000379996.7:c.2713+69G>C	ENSP00000369332.3:n.2713+69G>C
ENST00000623535.1:c.2782G>C	ENSP00000485244.1:p.Glu928Gln
NM_001037343.1:c.2713+69G>C	NP_001032420.1:n.2713+69G>C
NM_003159.2:c.2713+69G>C	NP_003150.1:n.2713+69G>C
XM_011545569.1:c.2785+69G>C	XP_011543871.1:n.2785+69G>C
XM_011545570.1:c.2704+69G>C	XP_011543872.1:n.2704+69G>C
XR_950484.1:n.3088+69G>C
NM_001323289.1:c.2782G>C	NP_001310218.1:p.Glu928Gln
NM_001323289.2:c.2782G>C MANE Select	NP_001310218.1:p.Glu928Gln
NM_001037343.2:c.2713+69G>C	NP_001032420.1:n.2713+69G>C
NM_003159.3:c.2713+69G>C	NP_003150.1:n.2713+69G>C