Canonical Allele Identifier: CA226631

Identifiers and link-outs to other resources

ClinVar Variation Id: 9890
dbSNP Id: rs104894933

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18647296C>A , CM000685.2:g.18647296C>A GRCh38
NC_000023.10:g.18665416C>A , CM000685.1:g.18665416C>A GRCh37
NC_000023.9:g.18575337C>A NCBI36
NG_008475.1:g.226692C>A
NG_008659.3:g.35153G>T , LRG_702:g.35153G>T

Transcript Alleles

HGVS Amino-acid change
NM_000330.3:c.221G>T , LRG_702t1:c.221G>T (RS1) NP_000321.1:p.Gly74Val
NM_001037343.1:c.2797+1206C>A (CDKL5) VV NP_001032420.1:p.=
NM_003159.2:c.2797+1206C>A (CDKL5) VV NP_003150.1:p.=
XM_011545569.1:c.2869+1206C>A (CDKL5) XP_011543871.1:p.=
XM_011545570.1:c.2788+1206C>A (CDKL5) XP_011543872.1:p.=
XR_950484.1:n.3172+1206C>A (CDKL5)
ENST00000379984.3:c.221G>T ENSP00000369320.3:p.Gly74Val
ENST00000379989.6:c.2797+1206C>A ENSP00000369325.3:p.=
ENST00000379996.7:c.2797+1206C>A ENSP00000369332.3:p.=
ENST00000476595.1:n.712G>T