Canonical Allele Identifier: CA515470544

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 1552145
• ClinVar RCV Id: RCV002196940
• dbSNP Id: rs2147178868
• gnomAD v4: X-18628379-A-G
• MyVariant Identifiers: chrX:g.18646499A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628379A>G , CM000685.2:g.18628379A>G	GRCh38
NC_000023.10:g.18646499A>G , CM000685.1:g.18646499A>G	GRCh37
NC_000023.9:g.18556420A>G	NCBI36
NG_008475.1:g.207775A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2505A>G MANE Select	ENSP00000485244.1:p.Pro835=
ENST00000674046.1:c.2628A>G	ENSP00000501174.1:p.Pro876=
ENST00000379989.6:c.2505A>G	ENSP00000369325.3:p.Pro835=
ENST00000379996.7:c.2505A>G	ENSP00000369332.3:p.Pro835=
ENST00000623535.1:c.2505A>G	ENSP00000485244.1:p.Pro835=
NM_001037343.1:c.2505A>G	NP_001032420.1:p.Pro835=
NM_003159.2:c.2505A>G	NP_003150.1:p.Pro835=
XM_011545569.1:c.2577A>G	XP_011543871.1:p.Pro859=
XM_011545570.1:c.2496A>G	XP_011543872.1:p.Pro832=
XR_950484.1:n.2880A>G
NM_001323289.1:c.2505A>G	NP_001310218.1:p.Pro835=
NM_001323289.2:c.2505A>G MANE Select	NP_001310218.1:p.Pro835=
NM_001037343.2:c.2505A>G	NP_001032420.1:p.Pro835=
NM_003159.3:c.2505A>G	NP_003150.1:p.Pro835=