Canonical Allele Identifier: CA199380

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 156074
• ClinVar RCV Id: RCV000144121 ; RCV000169999
• dbSNP Id: rs267608430
• gnomAD v4: X-18564524-T-C
• MyVariant Identifiers: chrX:g.18582644T>C (hg19) ; chrX:g.18564524T>C (hg38)
• PubMed: PMID:18063413 ; PMID:18790821

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18564524T>C , CM000685.2:g.18564524T>C	GRCh38
NC_000023.10:g.18582644T>C , CM000685.1:g.18582644T>C	GRCh37
NC_000023.9:g.18492565T>C	NCBI36
NG_008475.1:g.143920T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.145+2T>C MANE Select	ENSP00000485244.1:n.145+2T>C
ENST00000635828.1:c.145+2T>C	ENSP00000490170.1:n.145+2T>C
ENST00000637881.1:c.145+2T>C	ENSP00000489879.1:n.145+2T>C
ENST00000674046.1:c.145+2T>C	ENSP00000501174.1:n.145+2T>C
ENST00000379989.6:c.145+2T>C	ENSP00000369325.3:n.145+2T>C
ENST00000379996.7:c.145+2T>C	ENSP00000369332.3:n.145+2T>C
ENST00000463994.4:c.145+2T>C	ENSP00000485184.1:n.145+2T>C
ENST00000623364.3:c.145+2T>C	ENSP00000485581.1:n.145+2T>C
ENST00000623535.1:c.145+2T>C	ENSP00000485244.1:n.145+2T>C
ENST00000624700.3:c.145+2T>C	ENSP00000485359.1:n.145+2T>C
NM_001037343.1:c.145+2T>C	NP_001032420.1:n.145+2T>C
NM_003159.2:c.145+2T>C	NP_003150.1:n.145+2T>C
XM_011545569.1:c.145+2T>C	XP_011543871.1:n.145+2T>C
XM_011545570.1:c.14-10830T>C	XP_011543872.1:n.14-10830T>C
XR_950484.1:n.397+2T>C
NM_001323289.1:c.145+2T>C	NP_001310218.1:n.145+2T>C
NM_001323289.2:c.145+2T>C MANE Select	NP_001310218.1:n.145+2T>C
NM_001037343.2:c.145+2T>C	NP_001032420.1:n.145+2T>C
NM_003159.3:c.145+2T>C	NP_003150.1:n.145+2T>C