Canonical Allele Identifier: CA264159

Gene: CLN8

Linked Data

• ClinVar Variation Id: 56704
• ClinVar RCV Id: RCV000050117 ; RCV000464589 ; RCV000623329
• dbSNP Id: rs386834124
• ExAC: 8:1719429 G / A
• gnomAD v2: 8-1719429-G-A
• gnomAD v3: 8-1771263-G-A
• gnomAD v4: 8-1771263-G-A
• MyVariant Identifiers: chr8:g.1719429G>A (hg19) ; chr8:g.1771263G>A (hg38)
• PubMed: PMID:21990111 ; PMID:25891276 ; PMID:26657971 ; PMID:27844444

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1771263G>A , CM000670.2:g.1771263G>A	GRCh38
NC_000008.10:g.1719429G>A , CM000670.1:g.1719429G>A	GRCh37
NC_000008.9:g.1706836G>A	NCBI36
NG_008656.2:g.20486G>A , LRG_691:g.20486G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.209G>A MANE Select	ENSP00000328182.4:p.Arg70His
ENST00000519254.2:c.209G>A	ENSP00000490016.1:p.Arg70His
ENST00000520991.3:c.209G>A	ENSP00000487905.2:p.Arg70His
ENST00000524258.2:c.209G>A	ENSP00000488898.2:p.Arg70His
ENST00000635751.1:c.209G>A	ENSP00000489694.1:p.Arg70His
ENST00000635773.1:c.162G>A
ENST00000635855.1:c.209G>A	ENSP00000489726.1:p.Arg70His
ENST00000635970.1:c.209G>A	ENSP00000490439.1:p.Arg70His
ENST00000636175.1:c.9G>A
ENST00000636934.1:c.209G>A	ENSP00000490218.1:p.Arg70His
ENST00000637083.1:c.209G>A	ENSP00000490235.1:p.Arg70His
ENST00000637156.1:c.209G>A	ENSP00000490458.1:p.Arg70His
ENST00000637594.1:c.209G>A	ENSP00000489999.1:p.Arg70His
ENST00000331222.4:c.209G>A	ENSP00000328182.4:p.Arg70His
ENST00000520991.2:c.209G>A	ENSP00000487905.1:p.Arg70His
ENST00000524258.1:c.209G>A	ENSP00000488898.1:p.Arg70His
NM_018941.3:c.209G>A , LRG_691t1:c.209G>A	NP_061764.2:p.Arg70His
XM_005266021.3:c.209G>A	XP_005266078.1:p.Arg70His
XM_005266022.1:c.209G>A	XP_005266079.1:p.Arg70His
XM_005266023.1:c.209G>A	XP_005266080.1:p.Arg70His
XM_011534745.1:c.209G>A	XP_011533047.1:p.Arg70His
XM_011534746.1:c.209G>A	XP_011533048.1:p.Arg70His
XM_011534747.1:c.209G>A	XP_011533049.1:p.Arg70His
XM_005266021.4:c.209G>A	XP_005266078.1:p.Arg70His
XM_011534746.2:c.209G>A	XP_011533048.1:p.Arg70His
XM_011534747.2:c.209G>A	XP_011533049.1:p.Arg70His
NM_018941.4:c.209G>A MANE Select	NP_061764.2:p.Arg70His