Canonical Allele Identifier: CA209032

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 210643
• ClinVar RCV Id: RCV000194690 ; RCV000869220 ; RCV002311294 ; RCV003165431
• dbSNP Id: rs371603866
• ExAC: X:18622766 G / A
• gnomAD v2: X-18622766-G-A
• gnomAD v3: X-18604646-G-A
• gnomAD v4: X-18604646-G-A
• MyVariant Identifiers: chrX:g.18622766G>A (hg19) ; chrX:g.18604646G>A (hg38)
• ERepo: CA209032/MONDO:0100039/016

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604646G>A , CM000685.2:g.18604646G>A	GRCh38
NC_000023.10:g.18622766G>A , CM000685.1:g.18622766G>A	GRCh37
NC_000023.9:g.18532687G>A	NCBI36
NG_008475.1:g.184042G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1722G>A MANE Select	ENSP00000485244.1:p.Pro574=
ENST00000635828.1:c.1722G>A	ENSP00000490170.1:p.Pro574=
ENST00000674046.1:c.1722G>A	ENSP00000501174.1:p.Pro574=
ENST00000379989.6:c.1722G>A	ENSP00000369325.3:p.Pro574=
ENST00000379996.7:c.1722G>A	ENSP00000369332.3:p.Pro574=
ENST00000463994.4:c.1722G>A	ENSP00000485184.1:p.Pro574=
ENST00000623535.1:c.1722G>A	ENSP00000485244.1:p.Pro574=
NM_001037343.1:c.1722G>A	NP_001032420.1:p.Pro574=
NM_003159.2:c.1722G>A	NP_003150.1:p.Pro574=
XM_011545569.1:c.1671G>A	XP_011543871.1:p.Pro557=
XM_011545570.1:c.1590G>A	XP_011543872.1:p.Pro530=
XR_950484.1:n.1974G>A
NM_001323289.1:c.1722G>A	NP_001310218.1:p.Pro574=
NM_001323289.2:c.1722G>A MANE Select	NP_001310218.1:p.Pro574=
NM_001037343.2:c.1722G>A	NP_001032420.1:p.Pro574=
NM_003159.3:c.1722G>A	NP_003150.1:p.Pro574=