Canonical Allele Identifier: CA326987840

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 533397
• ClinVar RCV Id: RCV000640500
• dbSNP Id: rs891117762
• gnomAD v3: X-18604514-A-C
• gnomAD v4: X-18604514-A-C
• MyVariant Identifiers: chrX:g.18622634A>C (hg19) ; chrX:g.18604514A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604514A>C , CM000685.2:g.18604514A>C	GRCh38
NC_000023.10:g.18622634A>C , CM000685.1:g.18622634A>C	GRCh37
NC_000023.9:g.18532555A>C	NCBI36
NG_008475.1:g.183910A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1590A>C MANE Select	ENSP00000485244.1:p.Pro530=
ENST00000635828.1:c.1590A>C	ENSP00000490170.1:p.Pro530=
ENST00000674046.1:c.1590A>C	ENSP00000501174.1:p.Pro530=
ENST00000379989.6:c.1590A>C	ENSP00000369325.3:p.Pro530=
ENST00000379996.7:c.1590A>C	ENSP00000369332.3:p.Pro530=
ENST00000463994.4:c.1590A>C	ENSP00000485184.1:p.Pro530=
ENST00000623535.1:c.1590A>C	ENSP00000485244.1:p.Pro530=
NM_001037343.1:c.1590A>C	NP_001032420.1:p.Pro530=
NM_003159.2:c.1590A>C	NP_003150.1:p.Pro530=
XM_011545569.1:c.1539A>C	XP_011543871.1:p.Pro513=
XM_011545570.1:c.1458A>C	XP_011543872.1:p.Pro486=
XR_950484.1:n.1842A>C
NM_001323289.1:c.1590A>C	NP_001310218.1:p.Pro530=
NM_001323289.2:c.1590A>C MANE Select	NP_001310218.1:p.Pro530=
NM_001037343.2:c.1590A>C	NP_001032420.1:p.Pro530=
NM_003159.3:c.1590A>C	NP_003150.1:p.Pro530=