Canonical Allele Identifier: CA243465
Gene: CLN8 HGNC NCBI

Linked Data

ClinVar Variation Id: 196493
dbSNP Id: rs139003032
gnomAD v2: 8-1728678-A-T
gnomAD v3: 8-1780512-A-T
gnomAD v4: 8-1780512-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.1780512A>T , CM000670.2:g.1780512A>T GRCh38
NC_000008.10:g.1728678A>T , CM000670.1:g.1728678A>T GRCh37
NC_000008.9:g.1716085A>T NCBI36
NG_008656.2:g.29735A>T , LRG_691:g.29735A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331222.6:c.806A>T MANE Select ENSP00000328182.4:p.Glu269Val
ENST00000519254.2:c.806A>T ENSP00000490016.1:p.Glu269Val
ENST00000520991.3:c.*217A>T ENSP00000487905.2:n.*217A>T
ENST00000635751.1:c.806A>T ENSP00000489694.1:p.Glu269Val
ENST00000635773.1:c.496+8915A>T
ENST00000635855.1:c.543+8915A>T ENSP00000489726.1:n.543+8915A>T
ENST00000635970.1:c.806A>T ENSP00000490439.1:p.Glu269Val
ENST00000636175.1:c.343+8915A>T
ENST00000636934.1:c.543+8915A>T ENSP00000490218.1:n.543+8915A>T
ENST00000637083.1:c.806A>T ENSP00000490235.1:p.Glu269Val
ENST00000637156.1:c.806A>T ENSP00000490458.1:p.Glu269Val
ENST00000331222.4:c.806A>T ENSP00000328182.4:p.Glu269Val
ENST00000519254.1:n.325A>T
ENST00000523237.1:n.581A>T
NM_018941.3:c.806A>T , LRG_691t1:c.806A>T NP_061764.2:p.Glu269Val
XM_005266021.3:c.806A>T XP_005266078.1:p.Glu269Val
XM_005266022.1:c.806A>T XP_005266079.1:p.Glu269Val
XM_005266023.1:c.806A>T XP_005266080.1:p.Glu269Val
XM_011534745.1:c.806A>T XP_011533047.1:p.Glu269Val
XM_011534746.1:c.806A>T XP_011533048.1:p.Glu269Val
XM_005266021.4:c.806A>T XP_005266078.1:p.Glu269Val
XM_011534746.2:c.806A>T XP_011533048.1:p.Glu269Val
NM_018941.4:c.806A>T MANE Select NP_061764.2:p.Glu269Val