Canonical Allele Identifier: CA10360598

Linked Data

ClinVar Variation Id: 1036724
ClinVar RCV Id: RCV001339772
dbSNP Id: rs757697856
gnomAD v2: X-18660170-A-T
gnomAD v4: X-18642050-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18642050A>T , CM000685.2:g.18642050A>T GRCh38
NC_000023.10:g.18660170A>T , CM000685.1:g.18660170A>T GRCh37
NC_000023.9:g.18570091A>T NCBI36
NG_008475.1:g.221446A>T
NG_008659.3:g.40399T>A , LRG_702:g.40399T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.629T>A (RS1) MANE Select ENSP00000369320.3:p.Ile210Asn
ENST00000379984.3:c.629T>A (RS1) ENSP00000369320.3:p.Ile210Asn
ENST00000379989.6:c.2714-3957A>T (CDKL5) ENSP00000369325.3:n.2714-3957A>T
ENST00000379996.7:c.2714-3957A>T (CDKL5) ENSP00000369332.3:n.2714-3957A>T
ENST00000476595.1:n.1120T>A (RS1)
NM_000330.3:c.629T>A , LRG_702t1:c.629T>A (RS1) NP_000321.1:p.Ile210Asn
NM_001037343.1:c.2714-3957A>T (CDKL5) NP_001032420.1:n.2714-3957A>T
NM_003159.2:c.2714-3957A>T (CDKL5) NP_003150.1:n.2714-3957A>T
XM_011545569.1:c.2786-3957A>T (CDKL5) XP_011543871.1:n.2786-3957A>T
XM_011545570.1:c.2705-3957A>T (CDKL5) XP_011543872.1:n.2705-3957A>T
XR_950484.1:n.3089-3957A>T (CDKL5)
NM_000330.4:c.629T>A (RS1) MANE Select NP_000321.1:p.Ile210Asn
NM_001037343.2:c.2714-3957A>T (CDKL5) NP_001032420.1:n.2714-3957A>T
NM_003159.3:c.2714-3957A>T (CDKL5) NP_003150.1:n.2714-3957A>T