Canonical Allele Identifier: CA4599294

Gene: CLN8

Linked Data

• dbSNP Id: rs769373730
• ExAC: 8:1728377 T / C
• gnomAD v2: 8-1728377-T-C
• gnomAD v3: 8-1780211-T-C
• gnomAD v4: 8-1780211-T-C
• MyVariant Identifiers: chr8:g.1728377T>C (hg19) ; chr8:g.1780211T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780211T>C , CM000670.2:g.1780211T>C	GRCh38
NC_000008.10:g.1728377T>C , CM000670.1:g.1728377T>C	GRCh37
NC_000008.9:g.1715784T>C	NCBI36
NG_008656.2:g.29434T>C , LRG_691:g.29434T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000331222.6:c.544-39T>C MANE Select	ENSP00000328182.4:n.544-39T>C
ENST00000519254.2:c.544-39T>C	ENSP00000490016.1:n.544-39T>C
ENST00000520991.3:c.606-39T>C	ENSP00000487905.2:n.606-39T>C
ENST00000635751.1:c.544-39T>C	ENSP00000489694.1:n.544-39T>C
ENST00000635773.1:c.496+8614T>C
ENST00000635855.1:c.543+8614T>C	ENSP00000489726.1:n.543+8614T>C
ENST00000635970.1:c.544-39T>C	ENSP00000490439.1:n.544-39T>C
ENST00000636175.1:c.343+8614T>C
ENST00000636934.1:c.543+8614T>C	ENSP00000490218.1:n.543+8614T>C
ENST00000637083.1:c.544-39T>C	ENSP00000490235.1:n.544-39T>C
ENST00000637156.1:c.544-39T>C	ENSP00000490458.1:n.544-39T>C
ENST00000331222.4:c.544-39T>C	ENSP00000328182.4:n.544-39T>C
ENST00000519254.1:n.63-39T>C
ENST00000523237.1:n.319-39T>C
NM_018941.3:c.544-39T>C , LRG_691t1:c.544-39T>C	NP_061764.2:n.544-39T>C
XM_005266021.3:c.544-39T>C	XP_005266078.1:n.544-39T>C
XM_005266022.1:c.544-39T>C	XP_005266079.1:n.544-39T>C
XM_005266023.1:c.544-39T>C	XP_005266080.1:n.544-39T>C
XM_011534745.1:c.544-39T>C	XP_011533047.1:n.544-39T>C
XM_011534746.1:c.544-39T>C	XP_011533048.1:n.544-39T>C
XM_005266021.4:c.544-39T>C	XP_005266078.1:n.544-39T>C
XM_011534746.2:c.544-39T>C	XP_011533048.1:n.544-39T>C
NM_018941.4:c.544-39T>C MANE Select	NP_061764.2:n.544-39T>C