Canonical Allele Identifier: CA369953321
Gene: CLN8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1335834
ClinVar RCV Id: RCV001822037
dbSNP Id: rs2130991748
gnomAD v4: 8-1771375-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.1771375C>G , CM000670.2:g.1771375C>G GRCh38
NC_000008.10:g.1719541C>G , CM000670.1:g.1719541C>G GRCh37
NC_000008.9:g.1706948C>G NCBI36
NG_008656.2:g.20598C>G , LRG_691:g.20598C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331222.6:c.321C>G MANE Select ENSP00000328182.4:p.Ile107Met
ENST00000519254.2:c.321C>G ENSP00000490016.1:p.Ile107Met
ENST00000520991.3:c.321C>G ENSP00000487905.2:p.Ile107Met
ENST00000524258.2:c.321C>G ENSP00000488898.2:p.Ile107Met
ENST00000635751.1:c.321C>G ENSP00000489694.1:p.Ile107Met
ENST00000635773.1:c.274C>G
ENST00000635855.1:c.321C>G ENSP00000489726.1:p.Ile107Met
ENST00000635970.1:c.321C>G ENSP00000490439.1:p.Ile107Met
ENST00000636175.1:c.121C>G
ENST00000636934.1:c.321C>G ENSP00000490218.1:p.Ile107Met
ENST00000637083.1:c.321C>G ENSP00000490235.1:p.Ile107Met
ENST00000637156.1:c.321C>G ENSP00000490458.1:p.Ile107Met
ENST00000331222.4:c.321C>G ENSP00000328182.4:p.Ile107Met
ENST00000520991.2:c.321C>G ENSP00000487905.1:p.Ile107Met
NM_018941.3:c.321C>G , LRG_691t1:c.321C>G NP_061764.2:p.Ile107Met
XM_005266021.3:c.321C>G XP_005266078.1:p.Ile107Met
XM_005266022.1:c.321C>G XP_005266079.1:p.Ile107Met
XM_005266023.1:c.321C>G XP_005266080.1:p.Ile107Met
XM_011534745.1:c.321C>G XP_011533047.1:p.Ile107Met
XM_011534746.1:c.321C>G XP_011533048.1:p.Ile107Met
XM_011534747.1:c.321C>G XP_011533049.1:p.Ile107Met
XM_005266021.4:c.321C>G XP_005266078.1:p.Ile107Met
XM_011534746.2:c.321C>G XP_011533048.1:p.Ile107Met
XM_011534747.2:c.321C>G XP_011533049.1:p.Ile107Met
NM_018941.4:c.321C>G MANE Select NP_061764.2:p.Ile107Met