Canonical Allele Identifier: CA412368355

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 1013832
• ClinVar RCV Id: RCV001312479 ; RCV001843581
• dbSNP Id: rs1926619731
• gnomAD v4: X-18613235-G-A
• MyVariant Identifiers: chrX:g.18631355G>A (hg19) ; chrX:g.18613235G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613235G>A , CM000685.2:g.18613235G>A	GRCh38
NC_000023.10:g.18631355G>A , CM000685.1:g.18631355G>A	GRCh37
NC_000023.9:g.18541276G>A	NCBI36
NG_008475.1:g.192631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2236G>A MANE Select	ENSP00000485244.1:p.Gly746Arg
ENST00000635828.1:c.2236G>A	ENSP00000490170.1:p.Gly746Arg
ENST00000674046.1:c.2236G>A	ENSP00000501174.1:p.Gly746Arg
ENST00000379989.6:c.2236G>A	ENSP00000369325.3:p.Gly746Arg
ENST00000379996.7:c.2236G>A	ENSP00000369332.3:p.Gly746Arg
ENST00000463994.4:c.2236G>A	ENSP00000485184.1:p.Gly746Arg
ENST00000623535.1:c.2236G>A	ENSP00000485244.1:p.Gly746Arg
NM_001037343.1:c.2236G>A	NP_001032420.1:p.Gly746Arg
NM_003159.2:c.2236G>A	NP_003150.1:p.Gly746Arg
XM_011545569.1:c.2185G>A	XP_011543871.1:p.Gly729Arg
XM_011545570.1:c.2104G>A	XP_011543872.1:p.Gly702Arg
XR_950484.1:n.2488G>A
NM_001323289.1:c.2236G>A	NP_001310218.1:p.Gly746Arg
NM_001323289.2:c.2236G>A MANE Select	NP_001310218.1:p.Gly746Arg
NM_001037343.2:c.2236G>A	NP_001032420.1:p.Gly746Arg
NM_003159.3:c.2236G>A	NP_003150.1:p.Gly746Arg