Canonical Allele Identifier: CA171621
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 143790
dbSNP Id: rs267608647

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18608820C>T , CM000685.2:g.18608820C>T GRCh38
NC_000023.10:g.18626940C>T , CM000685.1:g.18626940C>T GRCh37
NC_000023.9:g.18536861C>T NCBI36
NG_008475.1:g.188216C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000623535.2:c.1954C>T MANE Select ENSP00000485244.1:p.Gln652Ter
ENST00000635828.1:c.1954C>T ENSP00000490170.1:p.Gln652Ter
ENST00000674046.1:c.1954C>T ENSP00000501174.1:p.Gln652Ter
ENST00000379989.6:c.1954C>T ENSP00000369325.3:p.Gln652Ter
ENST00000379996.7:c.1954C>T ENSP00000369332.3:p.Gln652Ter
ENST00000463994.4:c.1954C>T ENSP00000485184.1:p.Gln652Ter
ENST00000623535.1:c.1954C>T ENSP00000485244.1:p.Gln652Ter
NM_001037343.1:c.1954C>T NP_001032420.1:p.Gln652Ter
NM_003159.2:c.1954C>T NP_003150.1:p.Gln652Ter
XM_011545569.1:c.1903C>T XP_011543871.1:p.Gln635Ter
XM_011545570.1:c.1822C>T XP_011543872.1:p.Gln608Ter
XR_950484.1:n.2206C>T
NM_001323289.1:c.1954C>T NP_001310218.1:p.Gln652Ter
NM_001323289.2:c.1954C>T MANE Select NP_001310218.1:p.Gln652Ter
NM_001037343.2:c.1954C>T NP_001032420.1:p.Gln652Ter
NM_003159.3:c.1954C>T NP_003150.1:p.Gln652Ter