Canonical Allele Identifier: CA264191
Gene: CLN8 HGNC NCBI

Linked Data

ClinVar Variation Id: 56719
ClinVar RCV Id: RCV000050132
dbSNP Id: rs386834138
gnomAD v4: 8-1780472-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.1780472C>G , CM000670.2:g.1780472C>G GRCh38
NC_000008.10:g.1728638C>G , CM000670.1:g.1728638C>G GRCh37
NC_000008.9:g.1716045C>G NCBI36
NG_008656.2:g.29695C>G , LRG_691:g.29695C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331222.6:c.766C>G MANE Select ENSP00000328182.4:p.Gln256Glu
ENST00000519254.2:c.766C>G ENSP00000490016.1:p.Gln256Glu
ENST00000520991.3:c.*177C>G ENSP00000487905.2:n.*177C>G
ENST00000635751.1:c.766C>G ENSP00000489694.1:p.Gln256Glu
ENST00000635773.1:c.496+8875C>G
ENST00000635855.1:c.543+8875C>G ENSP00000489726.1:n.543+8875C>G
ENST00000635970.1:c.766C>G ENSP00000490439.1:p.Gln256Glu
ENST00000636175.1:c.343+8875C>G
ENST00000636934.1:c.543+8875C>G ENSP00000490218.1:n.543+8875C>G
ENST00000637083.1:c.766C>G ENSP00000490235.1:p.Gln256Glu
ENST00000637156.1:c.766C>G ENSP00000490458.1:p.Gln256Glu
ENST00000331222.4:c.766C>G ENSP00000328182.4:p.Gln256Glu
ENST00000519254.1:n.285C>G
ENST00000523237.1:n.541C>G
NM_018941.3:c.766C>G , LRG_691t1:c.766C>G NP_061764.2:p.Gln256Glu
XM_005266021.3:c.766C>G XP_005266078.1:p.Gln256Glu
XM_005266022.1:c.766C>G XP_005266079.1:p.Gln256Glu
XM_005266023.1:c.766C>G XP_005266080.1:p.Gln256Glu
XM_011534745.1:c.766C>G XP_011533047.1:p.Gln256Glu
XM_011534746.1:c.766C>G XP_011533048.1:p.Gln256Glu
XM_005266021.4:c.766C>G XP_005266078.1:p.Gln256Glu
XM_011534746.2:c.766C>G XP_011533048.1:p.Gln256Glu
NM_018941.4:c.766C>G MANE Select NP_061764.2:p.Gln256Glu