Canonical Allele Identifier: CA10360276

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 2938887
• ClinVar RCV Id: RCV003791613
• dbSNP Id: rs267608493
• ExAC: X:18602451 C / A
• gnomAD v2: X-18602451-C-A
• gnomAD v3: X-18584331-C-A
• gnomAD v4: X-18584331-C-A
• MyVariant Identifiers: chrX:g.18602451C>A (hg19) ; chrX:g.18584331C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18584331C>A , CM000685.2:g.18584331C>A	GRCh38
NC_000023.10:g.18602451C>A , CM000685.1:g.18602451C>A	GRCh37
NC_000023.9:g.18512372C>A	NCBI36
NG_008475.1:g.163727C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.532C>A MANE Select	ENSP00000485244.1:p.Arg178=
ENST00000635828.1:c.532C>A	ENSP00000490170.1:p.Arg178=
ENST00000637881.1:c.532C>A	ENSP00000489879.1:p.Arg178=
ENST00000674046.1:c.532C>A	ENSP00000501174.1:p.Arg178=
ENST00000379989.6:c.532C>A	ENSP00000369325.3:p.Arg178=
ENST00000379996.7:c.532C>A	ENSP00000369332.3:p.Arg178=
ENST00000463994.4:c.532C>A	ENSP00000485184.1:p.Arg178=
ENST00000623535.1:c.532C>A	ENSP00000485244.1:p.Arg178=
NM_001037343.1:c.532C>A	NP_001032420.1:p.Arg178=
NM_003159.2:c.532C>A	NP_003150.1:p.Arg178=
XM_011545569.1:c.532C>A	XP_011543871.1:p.Arg178=
XM_011545570.1:c.400C>A	XP_011543872.1:p.Arg134=
XR_950484.1:n.784C>A
NM_001323289.1:c.532C>A	NP_001310218.1:p.Arg178=
NM_001323289.2:c.532C>A MANE Select	NP_001310218.1:p.Arg178=
NM_001037343.2:c.532C>A	NP_001032420.1:p.Arg178=
NM_003159.3:c.532C>A	NP_003150.1:p.Arg178=