Canonical Allele Identifier: CA314029

Gene: CLN8

Linked Data

• ClinVar Variation Id: 205199
• ClinVar RCV Id: RCV000187133 ; RCV001827997 ; RCV002517853
• dbSNP Id: rs200999640
• gnomAD v4: 8-1771070-G-C
• MyVariant Identifiers: chr8:g.1719236G>C (hg19) ; chr8:g.1771070G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1771070G>C , CM000670.2:g.1771070G>C	GRCh38
NC_000008.10:g.1719236G>C , CM000670.1:g.1719236G>C	GRCh37
NC_000008.9:g.1706643G>C	NCBI36
NG_008656.2:g.20293G>C , LRG_691:g.20293G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.16G>C MANE Select	ENSP00000328182.4:p.Asp6His
ENST00000519254.2:c.16G>C	ENSP00000490016.1:p.Asp6His
ENST00000520991.3:c.16G>C	ENSP00000487905.2:p.Asp6His
ENST00000524258.2:c.16G>C	ENSP00000488898.2:p.Asp6His
ENST00000635751.1:c.16G>C	ENSP00000489694.1:p.Asp6His
ENST00000635855.1:c.16G>C	ENSP00000489726.1:p.Asp6His
ENST00000635970.1:c.16G>C	ENSP00000490439.1:p.Asp6His
ENST00000636934.1:c.16G>C	ENSP00000490218.1:p.Asp6His
ENST00000637083.1:c.16G>C	ENSP00000490235.1:p.Asp6His
ENST00000637156.1:c.16G>C	ENSP00000490458.1:p.Asp6His
ENST00000637594.1:c.16G>C	ENSP00000489999.1:p.Asp6His
ENST00000331222.4:c.16G>C	ENSP00000328182.4:p.Asp6His
ENST00000520991.2:c.16G>C	ENSP00000487905.1:p.Asp6His
ENST00000524258.1:c.16G>C	ENSP00000488898.1:p.Asp6His
NM_018941.3:c.16G>C , LRG_691t1:c.16G>C	NP_061764.2:p.Asp6His
XM_005266021.3:c.16G>C	XP_005266078.1:p.Asp6His
XM_005266022.1:c.16G>C	XP_005266079.1:p.Asp6His
XM_005266023.1:c.16G>C	XP_005266080.1:p.Asp6His
XM_011534745.1:c.16G>C	XP_011533047.1:p.Asp6His
XM_011534746.1:c.16G>C	XP_011533048.1:p.Asp6His
XM_011534747.1:c.16G>C	XP_011533049.1:p.Asp6His
XM_005266021.4:c.16G>C	XP_005266078.1:p.Asp6His
XM_011534746.2:c.16G>C	XP_011533048.1:p.Asp6His
XM_011534747.2:c.16G>C	XP_011533049.1:p.Asp6His
NM_018941.4:c.16G>C MANE Select	NP_061764.2:p.Asp6His