Canonical Allele Identifier: CA10360561

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 533392
• ClinVar RCV Id: RCV000640493 ; RCV000999341
• dbSNP Id: rs781774964
• ExAC: X:18646535 G / A
• gnomAD v2: X-18646535-G-A
• gnomAD v3: X-18628415-G-A
• gnomAD v4: X-18628415-G-A
• COSMIC: COSM295448
• MyVariant Identifiers: chrX:g.18646535G>A (hg19) ; chrX:g.18628415G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628415G>A , CM000685.2:g.18628415G>A	GRCh38
NC_000023.10:g.18646535G>A , CM000685.1:g.18646535G>A	GRCh37
NC_000023.9:g.18556456G>A	NCBI36
NG_008475.1:g.207811G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2541G>A MANE Select	ENSP00000485244.1:p.Ser847=
ENST00000674046.1:c.2664G>A	ENSP00000501174.1:p.Ser888=
ENST00000379989.6:c.2541G>A	ENSP00000369325.3:p.Ser847=
ENST00000379996.7:c.2541G>A	ENSP00000369332.3:p.Ser847=
ENST00000623535.1:c.2541G>A	ENSP00000485244.1:p.Ser847=
NM_001037343.1:c.2541G>A	NP_001032420.1:p.Ser847=
NM_003159.2:c.2541G>A	NP_003150.1:p.Ser847=
XM_011545569.1:c.2613G>A	XP_011543871.1:p.Ser871=
XM_011545570.1:c.2532G>A	XP_011543872.1:p.Ser844=
XR_950484.1:n.2916G>A
NM_001323289.1:c.2541G>A	NP_001310218.1:p.Ser847=
NM_001323289.2:c.2541G>A MANE Select	NP_001310218.1:p.Ser847=
NM_001037343.2:c.2541G>A	NP_001032420.1:p.Ser847=
NM_003159.3:c.2541G>A	NP_003150.1:p.Ser847=