Canonical Allele Identifier: CA4599328
Gene: CLN8 HGNC NCBI

Linked Data

ClinVar Variation Id: 282074
dbSNP Id: rs564074916
gnomAD v2: 8-1728520-C-T
gnomAD v3: 8-1780354-C-T
gnomAD v4: 8-1780354-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.1780354C>T , CM000670.2:g.1780354C>T GRCh38
NC_000008.10:g.1728520C>T , CM000670.1:g.1728520C>T GRCh37
NC_000008.9:g.1715927C>T NCBI36
NG_008656.2:g.29577C>T , LRG_691:g.29577C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331222.6:c.648C>T MANE Select ENSP00000328182.4:p.Phe216=
ENST00000519254.2:c.648C>T ENSP00000490016.1:p.Phe216=
ENST00000520991.3:c.*59C>T ENSP00000487905.2:n.*59C>T
ENST00000635751.1:c.648C>T ENSP00000489694.1:p.Phe216=
ENST00000635773.1:c.496+8757C>T
ENST00000635855.1:c.543+8757C>T ENSP00000489726.1:n.543+8757C>T
ENST00000635970.1:c.648C>T ENSP00000490439.1:p.Phe216=
ENST00000636175.1:c.343+8757C>T
ENST00000636934.1:c.543+8757C>T ENSP00000490218.1:n.543+8757C>T
ENST00000637083.1:c.648C>T ENSP00000490235.1:p.Phe216=
ENST00000637156.1:c.648C>T ENSP00000490458.1:p.Phe216=
ENST00000331222.4:c.648C>T ENSP00000328182.4:p.Phe216=
ENST00000519254.1:n.167C>T
ENST00000523237.1:n.423C>T
NM_018941.3:c.648C>T , LRG_691t1:c.648C>T NP_061764.2:p.Phe216=
XM_005266021.3:c.648C>T XP_005266078.1:p.Phe216=
XM_005266022.1:c.648C>T XP_005266079.1:p.Phe216=
XM_005266023.1:c.648C>T XP_005266080.1:p.Phe216=
XM_011534745.1:c.648C>T XP_011533047.1:p.Phe216=
XM_011534746.1:c.648C>T XP_011533048.1:p.Phe216=
XM_005266021.4:c.648C>T XP_005266078.1:p.Phe216=
XM_011534746.2:c.648C>T XP_011533048.1:p.Phe216=
NM_018941.4:c.648C>T MANE Select NP_061764.2:p.Phe216=