Canonical Allele Identifier: CA10360529

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 2158309
• ClinVar RCV Id: RCV003069704
• dbSNP Id: rs770440516
• ExAC: X:18638104 T / A
• gnomAD v2: X-18638104-T-A
• gnomAD v3: X-18619984-T-A
• gnomAD v4: X-18619984-T-A
• MyVariant Identifiers: chrX:g.18638104T>A (hg19) ; chrX:g.18619984T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619984T>A , CM000685.2:g.18619984T>A	GRCh38
NC_000023.10:g.18638104T>A , CM000685.1:g.18638104T>A	GRCh37
NC_000023.9:g.18548025T>A	NCBI36
NG_008475.1:g.199380T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.2376+18T>A MANE Select	ENSP00000485244.1:n.2376+18T>A
ENST00000635828.1:c.2376+18T>A	ENSP00000490170.1:n.2376+18T>A
ENST00000674046.1:c.2376+18T>A	ENSP00000501174.1:n.2376+18T>A
ENST00000379989.6:c.2376+18T>A	ENSP00000369325.3:n.2376+18T>A
ENST00000379996.7:c.2376+18T>A	ENSP00000369332.3:n.2376+18T>A
ENST00000623535.1:c.2376+18T>A	ENSP00000485244.1:n.2376+18T>A
NM_001037343.1:c.2376+18T>A	NP_001032420.1:n.2376+18T>A
NM_003159.2:c.2376+18T>A	NP_003150.1:n.2376+18T>A
XM_011545569.1:c.2325+18T>A	XP_011543871.1:n.2325+18T>A
XM_011545570.1:c.2244+18T>A	XP_011543872.1:n.2244+18T>A
XR_950484.1:n.2628+18T>A
NM_001323289.1:c.2376+18T>A	NP_001310218.1:n.2376+18T>A
NM_001323289.2:c.2376+18T>A MANE Select	NP_001310218.1:n.2376+18T>A
NM_001037343.2:c.2376+18T>A	NP_001032420.1:n.2376+18T>A
NM_003159.3:c.2376+18T>A	NP_003150.1:n.2376+18T>A