Canonical Allele Identifier: CA10360596

Linked Data

ClinVar Variation Id: 1161501
ClinVar RCV Id: RCV001506053
dbSNP Id: rs773102905
gnomAD v2: X-18660127-G-A
gnomAD v3: X-18642007-G-A
gnomAD v4: X-18642007-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18642007G>A , CM000685.2:g.18642007G>A GRCh38
NC_000023.10:g.18660127G>A , CM000685.1:g.18660127G>A GRCh37
NC_000023.9:g.18570048G>A NCBI36
NG_008475.1:g.221403G>A
NG_008659.3:g.40442C>T , LRG_702:g.40442C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.672C>T (RS1) MANE Select ENSP00000369320.3:p.Ala224=
ENST00000379984.3:c.672C>T (RS1) ENSP00000369320.3:p.Ala224=
ENST00000379989.6:c.2714-4000G>A (CDKL5) ENSP00000369325.3:n.2714-4000G>A
ENST00000379996.7:c.2714-4000G>A (CDKL5) ENSP00000369332.3:n.2714-4000G>A
ENST00000476595.1:n.1163C>T (RS1)
NM_000330.3:c.672C>T , LRG_702t1:c.672C>T (RS1) NP_000321.1:p.Ala224=
NM_001037343.1:c.2714-4000G>A (CDKL5) NP_001032420.1:n.2714-4000G>A
NM_003159.2:c.2714-4000G>A (CDKL5) NP_003150.1:n.2714-4000G>A
XM_011545569.1:c.2786-4000G>A (CDKL5) XP_011543871.1:n.2786-4000G>A
XM_011545570.1:c.2705-4000G>A (CDKL5) XP_011543872.1:n.2705-4000G>A
XR_950484.1:n.3089-4000G>A (CDKL5)
NM_000330.4:c.672C>T (RS1) MANE Select NP_000321.1:p.Ala224=
NM_001037343.2:c.2714-4000G>A (CDKL5) NP_001032420.1:n.2714-4000G>A
NM_003159.3:c.2714-4000G>A (CDKL5) NP_003150.1:n.2714-4000G>A