Canonical Allele Identifier: CA10360344
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1610637
ClinVar RCV Id: RCV002155521
dbSNP Id: rs774594152
gnomAD v2: X-18622110-G-C
gnomAD v4: X-18603990-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18603990G>C , CM000685.2:g.18603990G>C GRCh38
NC_000023.10:g.18622110G>C , CM000685.1:g.18622110G>C GRCh37
NC_000023.9:g.18532031G>C NCBI36
NG_008475.1:g.183386G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1066G>C MANE Select ENSP00000485244.1:p.Ala356Pro
ENST00000635828.1:c.1066G>C ENSP00000490170.1:p.Ala356Pro
ENST00000637881.1:c.1066G>C ENSP00000489879.1:p.Ala356Pro
ENST00000674046.1:c.1066G>C ENSP00000501174.1:p.Ala356Pro
ENST00000379989.6:c.1066G>C ENSP00000369325.3:p.Ala356Pro
ENST00000379996.7:c.1066G>C ENSP00000369332.3:p.Ala356Pro
ENST00000463994.4:c.1066G>C ENSP00000485184.1:p.Ala356Pro
ENST00000623535.1:c.1066G>C ENSP00000485244.1:p.Ala356Pro
NM_001037343.1:c.1066G>C NP_001032420.1:p.Ala356Pro
NM_003159.2:c.1066G>C NP_003150.1:p.Ala356Pro
XM_011545569.1:c.1015G>C XP_011543871.1:p.Ala339Pro
XM_011545570.1:c.934G>C XP_011543872.1:p.Ala312Pro
XR_950484.1:n.1318G>C
NM_001323289.1:c.1066G>C NP_001310218.1:p.Ala356Pro
NM_001323289.2:c.1066G>C MANE Select NP_001310218.1:p.Ala356Pro
NM_001037343.2:c.1066G>C NP_001032420.1:p.Ala356Pro
NM_003159.3:c.1066G>C NP_003150.1:p.Ala356Pro