Canonical Allele Identifier: CA252416

Gene: CLN8

Linked Data

• ClinVar Variation Id: 2803
• ClinVar RCV Id: RCV000002937 ; RCV001090293 ; RCV001851598
• dbSNP Id: rs28940569
• MyVariant Identifiers: chr8:g.1728661G>C (hg19) ; chr8:g.1780495G>C (hg38)
• PubMed: PMID:15024724 ; PMID:15074367

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780495G>C , CM000670.2:g.1780495G>C	GRCh38
NC_000008.10:g.1728661G>C , CM000670.1:g.1728661G>C	GRCh37
NC_000008.9:g.1716068G>C	NCBI36
NG_008656.2:g.29718G>C , LRG_691:g.29718G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.789G>C MANE Select	ENSP00000328182.4:p.Trp263Cys
ENST00000519254.2:c.789G>C	ENSP00000490016.1:p.Trp263Cys
ENST00000520991.3:c.*200G>C	ENSP00000487905.2:n.*200G>C
ENST00000635751.1:c.789G>C	ENSP00000489694.1:p.Trp263Cys
ENST00000635773.1:c.496+8898G>C
ENST00000635855.1:c.543+8898G>C	ENSP00000489726.1:n.543+8898G>C
ENST00000635970.1:c.789G>C	ENSP00000490439.1:p.Trp263Cys
ENST00000636175.1:c.343+8898G>C
ENST00000636934.1:c.543+8898G>C	ENSP00000490218.1:n.543+8898G>C
ENST00000637083.1:c.789G>C	ENSP00000490235.1:p.Trp263Cys
ENST00000637156.1:c.789G>C	ENSP00000490458.1:p.Trp263Cys
ENST00000331222.4:c.789G>C	ENSP00000328182.4:p.Trp263Cys
ENST00000519254.1:n.308G>C
ENST00000523237.1:n.564G>C
NM_018941.3:c.789G>C , LRG_691t1:c.789G>C	NP_061764.2:p.Trp263Cys
XM_005266021.3:c.789G>C	XP_005266078.1:p.Trp263Cys
XM_005266022.1:c.789G>C	XP_005266079.1:p.Trp263Cys
XM_005266023.1:c.789G>C	XP_005266080.1:p.Trp263Cys
XM_011534745.1:c.789G>C	XP_011533047.1:p.Trp263Cys
XM_011534746.1:c.789G>C	XP_011533048.1:p.Trp263Cys
XM_005266021.4:c.789G>C	XP_005266078.1:p.Trp263Cys
XM_011534746.2:c.789G>C	XP_011533048.1:p.Trp263Cys
NM_018941.4:c.789G>C MANE Select	NP_061764.2:p.Trp263Cys