Canonical Allele Identifier: CA252418
Gene: CLN8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2804
ClinVar RCV Id: RCV000002938
dbSNP Id: rs104894060

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.1780316C>T , CM000670.2:g.1780316C>T GRCh38
NC_000008.10:g.1728482C>T , CM000670.1:g.1728482C>T GRCh37
NC_000008.9:g.1715889C>T NCBI36
NG_008656.2:g.29539C>T , LRG_691:g.29539C>T

Transcript Alleles

HGVS Amino-acid change
NM_018941.3:c.610C>T , LRG_691t1:c.610C>T NP_061764.2:p.Arg204Cys
XM_005266021.3:c.610C>T XP_005266078.1:p.Arg204Cys
XM_005266022.1:c.610C>T XP_005266079.1:p.Arg204Cys
XM_005266023.1:c.610C>T XP_005266080.1:p.Arg204Cys
XM_011534745.1:c.610C>T XP_011533047.1:p.Arg204Cys
XM_011534746.1:c.610C>T XP_011533048.1:p.Arg204Cys
XM_005266021.4:c.610C>T XP_005266078.1:p.Arg204Cys
XM_011534746.2:c.610C>T XP_011533048.1:p.Arg204Cys
ENST00000331222.4:c.610C>T ENSP00000328182.4:p.Arg204Cys
ENST00000519254.1:n.129C>T
ENST00000523237.1:n.385C>T