Canonical Allele Identifier: CA515470175

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 588018
• ClinVar RCV Id: RCV000716261 ; RCV000925511 ; RCV001576200 ; RCV004544966
• dbSNP Id: rs750878642
• gnomAD v2: X-18602399-G-C
• gnomAD v3: X-18584279-G-C
• gnomAD v4: X-18584279-G-C
• MyVariant Identifiers: chrX:g.18602399G>C (hg19) ; chrX:g.18584279G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18584279G>C , CM000685.2:g.18584279G>C	GRCh38
NC_000023.10:g.18602399G>C , CM000685.1:g.18602399G>C	GRCh37
NC_000023.9:g.18512320G>C	NCBI36
NG_008475.1:g.163675G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.480G>C MANE Select	ENSP00000485244.1:p.Leu160=
ENST00000635828.1:c.480G>C	ENSP00000490170.1:p.Leu160=
ENST00000637881.1:c.480G>C	ENSP00000489879.1:p.Leu160=
ENST00000674046.1:c.480G>C	ENSP00000501174.1:p.Leu160=
ENST00000379989.6:c.480G>C	ENSP00000369325.3:p.Leu160=
ENST00000379996.7:c.480G>C	ENSP00000369332.3:p.Leu160=
ENST00000463994.4:c.480G>C	ENSP00000485184.1:p.Leu160=
ENST00000623535.1:c.480G>C	ENSP00000485244.1:p.Leu160=
NM_001037343.1:c.480G>C	NP_001032420.1:p.Leu160=
NM_003159.2:c.480G>C	NP_003150.1:p.Leu160=
XM_011545569.1:c.480G>C	XP_011543871.1:p.Leu160=
XM_011545570.1:c.348G>C	XP_011543872.1:p.Leu116=
XR_950484.1:n.732G>C
NM_001323289.1:c.480G>C	NP_001310218.1:p.Leu160=
NM_001323289.2:c.480G>C MANE Select	NP_001310218.1:p.Leu160=
NM_001037343.2:c.480G>C	NP_001032420.1:p.Leu160=
NM_003159.3:c.480G>C	NP_003150.1:p.Leu160=