Canonical Allele Identifier: CA327007711

Gene: CDKL5

Linked Data

• dbSNP Id: rs773797112
• gnomAD v4: X-18619996-T-C
• MyVariant Identifiers: chrX:g.18638116T>C (hg19) ; chrX:g.18619996T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619996T>C , CM000685.2:g.18619996T>C	GRCh38
NC_000023.10:g.18638116T>C , CM000685.1:g.18638116T>C	GRCh37
NC_000023.9:g.18548037T>C	NCBI36
NG_008475.1:g.199392T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.2376+30T>C MANE Select	ENSP00000485244.1:n.2376+30T>C
ENST00000635828.1:c.2376+30T>C	ENSP00000490170.1:n.2376+30T>C
ENST00000674046.1:c.2376+30T>C	ENSP00000501174.1:n.2376+30T>C
ENST00000379989.6:c.2376+30T>C	ENSP00000369325.3:n.2376+30T>C
ENST00000379996.7:c.2376+30T>C	ENSP00000369332.3:n.2376+30T>C
ENST00000623535.1:c.2376+30T>C	ENSP00000485244.1:n.2376+30T>C
NM_001037343.1:c.2376+30T>C	NP_001032420.1:n.2376+30T>C
NM_003159.2:c.2376+30T>C	NP_003150.1:n.2376+30T>C
XM_011545569.1:c.2325+30T>C	XP_011543871.1:n.2325+30T>C
XM_011545570.1:c.2244+30T>C	XP_011543872.1:n.2244+30T>C
XR_950484.1:n.2628+30T>C
NM_001323289.1:c.2376+30T>C	NP_001310218.1:n.2376+30T>C
NM_001323289.2:c.2376+30T>C MANE Select	NP_001310218.1:n.2376+30T>C
NM_001037343.2:c.2376+30T>C	NP_001032420.1:n.2376+30T>C
NM_003159.3:c.2376+30T>C	NP_003150.1:n.2376+30T>C