Canonical Allele Identifier: CA412363648

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 1707940
• ClinVar RCV Id: RCV002287101 ; RCV003774950
• dbSNP Id: rs1926305758
• gnomAD v3: X-18604812-A-C
• gnomAD v4: X-18604812-A-C
• MyVariant Identifiers: chrX:g.18622932A>C (hg19) ; chrX:g.18604812A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604812A>C , CM000685.2:g.18604812A>C	GRCh38
NC_000023.10:g.18622932A>C , CM000685.1:g.18622932A>C	GRCh37
NC_000023.9:g.18532853A>C	NCBI36
NG_008475.1:g.184208A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1888A>C MANE Select	ENSP00000485244.1:p.Ser630Arg
ENST00000635828.1:c.1888A>C	ENSP00000490170.1:p.Ser630Arg
ENST00000674046.1:c.1888A>C	ENSP00000501174.1:p.Ser630Arg
ENST00000379989.6:c.1888A>C	ENSP00000369325.3:p.Ser630Arg
ENST00000379996.7:c.1888A>C	ENSP00000369332.3:p.Ser630Arg
ENST00000463994.4:c.1888A>C	ENSP00000485184.1:p.Ser630Arg
ENST00000623535.1:c.1888A>C	ENSP00000485244.1:p.Ser630Arg
NM_001037343.1:c.1888A>C	NP_001032420.1:p.Ser630Arg
NM_003159.2:c.1888A>C	NP_003150.1:p.Ser630Arg
XM_011545569.1:c.1837A>C	XP_011543871.1:p.Ser613Arg
XM_011545570.1:c.1756A>C	XP_011543872.1:p.Ser586Arg
XR_950484.1:n.2140A>C
NM_001323289.1:c.1888A>C	NP_001310218.1:p.Ser630Arg
NM_001323289.2:c.1888A>C MANE Select	NP_001310218.1:p.Ser630Arg
NM_001037343.2:c.1888A>C	NP_001032420.1:p.Ser630Arg
NM_003159.3:c.1888A>C	NP_003150.1:p.Ser630Arg