Canonical Allele Identifier: CA412368546

Gene: CDKL5

Linked Data

• dbSNP Id: rs1926621290
• gnomAD v3: X-18613258-A-T
• gnomAD v4: X-18613258-A-T
• MyVariant Identifiers: chrX:g.18631378A>T (hg19) ; chrX:g.18613258A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613258A>T , CM000685.2:g.18613258A>T	GRCh38
NC_000023.10:g.18631378A>T , CM000685.1:g.18631378A>T	GRCh37
NC_000023.9:g.18541299A>T	NCBI36
NG_008475.1:g.192654A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2259A>T MANE Select	ENSP00000485244.1:p.Gln753His
ENST00000635828.1:c.2259A>T	ENSP00000490170.1:p.Gln753His
ENST00000674046.1:c.2259A>T	ENSP00000501174.1:p.Gln753His
ENST00000379989.6:c.2259A>T	ENSP00000369325.3:p.Gln753His
ENST00000379996.7:c.2259A>T	ENSP00000369332.3:p.Gln753His
ENST00000463994.4:c.2259A>T	ENSP00000485184.1:p.Gln753His
ENST00000623535.1:c.2259A>T	ENSP00000485244.1:p.Gln753His
NM_001037343.1:c.2259A>T	NP_001032420.1:p.Gln753His
NM_003159.2:c.2259A>T	NP_003150.1:p.Gln753His
XM_011545569.1:c.2208A>T	XP_011543871.1:p.Gln736His
XM_011545570.1:c.2127A>T	XP_011543872.1:p.Gln709His
XR_950484.1:n.2511A>T
NM_001323289.1:c.2259A>T	NP_001310218.1:p.Gln753His
NM_001323289.2:c.2259A>T MANE Select	NP_001310218.1:p.Gln753His
NM_001037343.2:c.2259A>T	NP_001032420.1:p.Gln753His
NM_003159.3:c.2259A>T	NP_003150.1:p.Gln753His