Canonical Allele Identifier: CA209185

Linked Data

ClinVar Variation Id: 210646
dbSNP Id: rs747799506
gnomAD v2: X-18668628-G-A
gnomAD v3: X-18650508-G-A
gnomAD v4: X-18650508-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18650508G>A , CM000685.2:g.18650508G>A GRCh38
NC_000023.10:g.18668628G>A , CM000685.1:g.18668628G>A GRCh37
NC_000023.9:g.18578549G>A NCBI36
NG_008475.1:g.229904G>A
NG_008659.3:g.31941C>T , LRG_702:g.31941C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.185-3176C>T (RS1) MANE Select ENSP00000369320.3:n.185-3176C>T
ENST00000673617.1:n.168G>A (CDKL5)
ENST00000379984.3:c.185-3176C>T (RS1) ENSP00000369320.3:n.185-3176C>T
ENST00000379989.6:c.2896G>A (CDKL5) ENSP00000369325.3:p.Val966Ile
ENST00000379996.7:c.2896G>A (CDKL5) ENSP00000369332.3:p.Val966Ile
ENST00000476595.1:n.30C>T (RS1)
NM_000330.3:c.185-3176C>T , LRG_702t1:c.185-3176C>T (RS1) NP_000321.1:n.185-3176C>T
NM_001037343.1:c.2896G>A (CDKL5) NP_001032420.1:p.Val966Ile
NM_003159.2:c.2896G>A (CDKL5) NP_003150.1:p.Val966Ile
XM_011545569.1:c.2968G>A (CDKL5) XP_011543871.1:p.Val990Ile
XM_011545570.1:c.2887G>A (CDKL5) XP_011543872.1:p.Val963Ile
XR_950484.1:n.3271G>A (CDKL5)
NM_000330.4:c.185-3176C>T (RS1) MANE Select NP_000321.1:n.185-3176C>T
NM_001037343.2:c.2896G>A (CDKL5) NP_001032420.1:p.Val966Ile
NM_003159.3:c.2896G>A (CDKL5) NP_003150.1:p.Val966Ile