Canonical Allele Identifier: CA254929

Identifiers and link-outs to other resources

ClinVar Variation Id: 9893
ClinVar RCV Id: RCV000010571
dbSNP Id: rs104894929

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18642012A>G , CM000685.2:g.18642012A>G GRCh38
NC_000023.10:g.18660132A>G , CM000685.1:g.18660132A>G GRCh37
NC_000023.9:g.18570053A>G NCBI36
NG_008475.1:g.221408A>G
NG_008659.3:g.40437T>C , LRG_702:g.40437T>C

Transcript Alleles

HGVS Amino-acid change
NM_000330.3:c.667T>C , LRG_702t1:c.667T>C (RS1) NP_000321.1:p.Cys223Arg
NM_001037343.1:c.2714-3995A>G (CDKL5) VV NP_001032420.1:p.=
NM_003159.2:c.2714-3995A>G (CDKL5) VV NP_003150.1:p.=
XM_011545569.1:c.2786-3995A>G (CDKL5) XP_011543871.1:p.=
XM_011545570.1:c.2705-3995A>G (CDKL5) XP_011543872.1:p.=
XR_950484.1:n.3089-3995A>G (CDKL5)
ENST00000379984.3:c.667T>C ENSP00000369320.3:p.Cys223Arg
ENST00000379989.6:c.2714-3995A>G ENSP00000369325.3:p.=
ENST00000379996.7:c.2714-3995A>G ENSP00000369332.3:p.=
ENST00000476595.1:n.1158T>C