Canonical Allele Identifier: CA16621281

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 423121
• ClinVar RCV Id: RCV000479946 ; RCV001227597
• dbSNP Id: rs1064796245
• gnomAD v4: X-18608806-T-C
• MyVariant Identifiers: chrX:g.18626926T>C (hg19) ; chrX:g.18608806T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18608806T>C , CM000685.2:g.18608806T>C	GRCh38
NC_000023.10:g.18626926T>C , CM000685.1:g.18626926T>C	GRCh37
NC_000023.9:g.18536847T>C	NCBI36
NG_008475.1:g.188202T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1945-5T>C MANE Select	ENSP00000485244.1:n.1945-5T>C
ENST00000635828.1:c.1945-5T>C	ENSP00000490170.1:n.1945-5T>C
ENST00000674046.1:c.1945-5T>C	ENSP00000501174.1:n.1945-5T>C
ENST00000379989.6:c.1945-5T>C	ENSP00000369325.3:n.1945-5T>C
ENST00000379996.7:c.1945-5T>C	ENSP00000369332.3:n.1945-5T>C
ENST00000463994.4:c.1945-5T>C	ENSP00000485184.1:n.1945-5T>C
ENST00000623535.1:c.1945-5T>C	ENSP00000485244.1:n.1945-5T>C
NM_001037343.1:c.1945-5T>C	NP_001032420.1:n.1945-5T>C
NM_003159.2:c.1945-5T>C	NP_003150.1:n.1945-5T>C
XM_011545569.1:c.1894-5T>C	XP_011543871.1:n.1894-5T>C
XM_011545570.1:c.1813-5T>C	XP_011543872.1:n.1813-5T>C
XR_950484.1:n.2197-5T>C
NM_001323289.1:c.1945-5T>C	NP_001310218.1:n.1945-5T>C
NM_001323289.2:c.1945-5T>C MANE Select	NP_001310218.1:n.1945-5T>C
NM_001037343.2:c.1945-5T>C	NP_001032420.1:n.1945-5T>C
NM_003159.3:c.1945-5T>C	NP_003150.1:n.1945-5T>C