Canonical Allele Identifier: CA240506
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 194499
dbSNP Id: rs748459878
gnomAD v2: X-18631362-A-G
gnomAD v3: X-18613242-A-G
gnomAD v4: X-18613242-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18613242A>G , CM000685.2:g.18613242A>G GRCh38
NC_000023.10:g.18631362A>G , CM000685.1:g.18631362A>G GRCh37
NC_000023.9:g.18541283A>G NCBI36
NG_008475.1:g.192638A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.2243A>G MANE Select ENSP00000485244.1:p.Asn748Ser
ENST00000635828.1:c.2243A>G ENSP00000490170.1:p.Asn748Ser
ENST00000674046.1:c.2243A>G ENSP00000501174.1:p.Asn748Ser
ENST00000379989.6:c.2243A>G ENSP00000369325.3:p.Asn748Ser
ENST00000379996.7:c.2243A>G ENSP00000369332.3:p.Asn748Ser
ENST00000463994.4:c.2243A>G ENSP00000485184.1:p.Asn748Ser
ENST00000623535.1:c.2243A>G ENSP00000485244.1:p.Asn748Ser
NM_001037343.1:c.2243A>G NP_001032420.1:p.Asn748Ser
NM_003159.2:c.2243A>G NP_003150.1:p.Asn748Ser
XM_011545569.1:c.2192A>G XP_011543871.1:p.Asn731Ser
XM_011545570.1:c.2111A>G XP_011543872.1:p.Asn704Ser
XR_950484.1:n.2495A>G
NM_001323289.1:c.2243A>G NP_001310218.1:p.Asn748Ser
NM_001323289.2:c.2243A>G MANE Select NP_001310218.1:p.Asn748Ser
NM_001037343.2:c.2243A>G NP_001032420.1:p.Asn748Ser
NM_003159.3:c.2243A>G NP_003150.1:p.Asn748Ser