Canonical Allele Identifier: CA4599164

Gene: CLN8

Linked Data

• dbSNP Id: rs769770739
• ExAC: 8:1719210 A / G
• gnomAD v2: 8-1719210-A-G
• gnomAD v4: 8-1771044-A-G
• MyVariant Identifiers: chr8:g.1719210A>G (hg19) ; chr8:g.1771044A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1771044A>G , CM000670.2:g.1771044A>G	GRCh38
NC_000008.10:g.1719210A>G , CM000670.1:g.1719210A>G	GRCh37
NC_000008.9:g.1706617A>G	NCBI36
NG_008656.2:g.20267A>G , LRG_691:g.20267A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000331222.6:c.-11A>G MANE Select	ENSP00000328182.4:n.-11A>G
ENST00000519254.2:c.-11A>G	ENSP00000490016.1:n.-11A>G
ENST00000520991.3:c.-11A>G	ENSP00000487905.2:n.-11A>G
ENST00000524258.2:c.-11A>G	ENSP00000488898.2:n.-11A>G
ENST00000635751.1:c.-11A>G	ENSP00000489694.1:n.-11A>G
ENST00000635855.1:c.-11A>G	ENSP00000489726.1:n.-11A>G
ENST00000635970.1:c.-11A>G	ENSP00000490439.1:n.-11A>G
ENST00000636934.1:c.-11A>G	ENSP00000490218.1:n.-11A>G
ENST00000637083.1:c.-11A>G	ENSP00000490235.1:n.-11A>G
ENST00000637156.1:c.-11A>G	ENSP00000490458.1:n.-11A>G
ENST00000637594.1:c.-11A>G	ENSP00000489999.1:n.-11A>G
ENST00000331222.4:c.-11A>G	ENSP00000328182.4:n.-11A>G
ENST00000520991.2:c.-11A>G	ENSP00000487905.1:n.-11A>G
ENST00000524258.1:c.-11A>G	ENSP00000488898.1:n.-11A>G
NM_018941.3:c.-11A>G , LRG_691t1:c.-11A>G	NP_061764.2:n.-11A>G
XM_005266021.3:c.-11A>G	XP_005266078.1:n.-11A>G
XM_005266022.1:c.-11A>G	XP_005266079.1:n.-11A>G
XM_005266023.1:c.-11A>G	XP_005266080.1:n.-11A>G
XM_011534745.1:c.-11A>G	XP_011533047.1:n.-11A>G
XM_011534746.1:c.-11A>G	XP_011533048.1:n.-11A>G
XM_011534747.1:c.-11A>G	XP_011533049.1:n.-11A>G
XM_005266021.4:c.-11A>G	XP_005266078.1:n.-11A>G
XM_011534746.2:c.-11A>G	XP_011533048.1:n.-11A>G
XM_011534747.2:c.-11A>G	XP_011533049.1:n.-11A>G
NM_018941.4:c.-11A>G MANE Select	NP_061764.2:n.-11A>G