Canonical Allele Identifier: CA326987740
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 569644
ClinVar RCV Id: RCV001417450
dbSNP Id: rs921600020
gnomAD v4: X-18604122-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604122A>C , CM000685.2:g.18604122A>C GRCh38
NC_000023.10:g.18622242A>C , CM000685.1:g.18622242A>C GRCh37
NC_000023.9:g.18532163A>C NCBI36
NG_008475.1:g.183518A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1198A>C MANE Select ENSP00000485244.1:p.Asn400His
ENST00000635828.1:c.1198A>C ENSP00000490170.1:p.Asn400His
ENST00000637881.1:c.1198A>C ENSP00000489879.1:p.Asn400His
ENST00000674046.1:c.1198A>C ENSP00000501174.1:p.Asn400His
ENST00000379989.6:c.1198A>C ENSP00000369325.3:p.Asn400His
ENST00000379996.7:c.1198A>C ENSP00000369332.3:p.Asn400His
ENST00000463994.4:c.1198A>C ENSP00000485184.1:p.Asn400His
ENST00000623535.1:c.1198A>C ENSP00000485244.1:p.Asn400His
NM_001037343.1:c.1198A>C NP_001032420.1:p.Asn400His
NM_003159.2:c.1198A>C NP_003150.1:p.Asn400His
XM_011545569.1:c.1147A>C XP_011543871.1:p.Asn383His
XM_011545570.1:c.1066A>C XP_011543872.1:p.Asn356His
XR_950484.1:n.1450A>C
NM_001323289.1:c.1198A>C NP_001310218.1:p.Asn400His
NM_001323289.2:c.1198A>C MANE Select NP_001310218.1:p.Asn400His
NM_001037343.2:c.1198A>C NP_001032420.1:p.Asn400His
NM_003159.3:c.1198A>C NP_003150.1:p.Asn400His