Canonical Allele Identifier: CA2417979446

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 2940685
• ClinVar RCV Id: RCV003799995
• dbSNP Id: rs1188189985
• gnomAD v4: X-18619977-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619977G>T , CM000685.2:g.18619977G>T	GRCh38
NC_000023.10:g.18638097G>T , CM000685.1:g.18638097G>T	GRCh37
NC_000023.9:g.18548018G>T	NCBI36
NG_008475.1:g.199373G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.2376+11G>T MANE Select	ENSP00000485244.1:n.2376+11G>T
ENST00000635828.1:c.2376+11G>T	ENSP00000490170.1:n.2376+11G>T
ENST00000674046.1:c.2376+11G>T	ENSP00000501174.1:n.2376+11G>T
ENST00000379989.6:c.2376+11G>T	ENSP00000369325.3:n.2376+11G>T
ENST00000379996.7:c.2376+11G>T	ENSP00000369332.3:n.2376+11G>T
ENST00000623535.1:c.2376+11G>T	ENSP00000485244.1:n.2376+11G>T
NM_001037343.1:c.2376+11G>T	NP_001032420.1:n.2376+11G>T
NM_003159.2:c.2376+11G>T	NP_003150.1:n.2376+11G>T
XM_011545569.1:c.2325+11G>T	XP_011543871.1:n.2325+11G>T
XM_011545570.1:c.2244+11G>T	XP_011543872.1:n.2244+11G>T
XR_950484.1:n.2628+11G>T
NM_001323289.1:c.2376+11G>T	NP_001310218.1:n.2376+11G>T
NM_001323289.2:c.2376+11G>T MANE Select	NP_001310218.1:n.2376+11G>T
NM_001037343.2:c.2376+11G>T	NP_001032420.1:n.2376+11G>T
NM_003159.3:c.2376+11G>T	NP_003150.1:n.2376+11G>T