Canonical Allele Identifier: CA264180
Gene: CLN8 HGNC NCBI

Linked Data

ClinVar Variation Id: 56714
ClinVar RCV Id: RCV000050127
dbSNP Id: rs386834133
gnomAD v4: 8-1780287-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.1780287A>G , CM000670.2:g.1780287A>G GRCh38
NC_000008.10:g.1728453A>G , CM000670.1:g.1728453A>G GRCh37
NC_000008.9:g.1715860A>G NCBI36
NG_008656.2:g.29510A>G , LRG_691:g.29510A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331222.6:c.581A>G MANE Select ENSP00000328182.4:p.Gln194Arg
ENST00000519254.2:c.581A>G ENSP00000490016.1:p.Gln194Arg
ENST00000520991.3:c.643A>G ENSP00000487905.2:p.Ser215Gly
ENST00000635751.1:c.581A>G ENSP00000489694.1:p.Gln194Arg
ENST00000635773.1:c.496+8690A>G
ENST00000635855.1:c.543+8690A>G ENSP00000489726.1:n.543+8690A>G
ENST00000635970.1:c.581A>G ENSP00000490439.1:p.Gln194Arg
ENST00000636175.1:c.343+8690A>G
ENST00000636934.1:c.543+8690A>G ENSP00000490218.1:n.543+8690A>G
ENST00000637083.1:c.581A>G ENSP00000490235.1:p.Gln194Arg
ENST00000637156.1:c.581A>G ENSP00000490458.1:p.Gln194Arg
ENST00000331222.4:c.581A>G ENSP00000328182.4:p.Gln194Arg
ENST00000519254.1:n.100A>G
ENST00000523237.1:n.356A>G
NM_018941.3:c.581A>G , LRG_691t1:c.581A>G NP_061764.2:p.Gln194Arg
XM_005266021.3:c.581A>G XP_005266078.1:p.Gln194Arg
XM_005266022.1:c.581A>G XP_005266079.1:p.Gln194Arg
XM_005266023.1:c.581A>G XP_005266080.1:p.Gln194Arg
XM_011534745.1:c.581A>G XP_011533047.1:p.Gln194Arg
XM_011534746.1:c.581A>G XP_011533048.1:p.Gln194Arg
XM_005266021.4:c.581A>G XP_005266078.1:p.Gln194Arg
XM_011534746.2:c.581A>G XP_011533048.1:p.Gln194Arg
NM_018941.4:c.581A>G MANE Select NP_061764.2:p.Gln194Arg