Canonical Allele Identifier: CA4599347

Gene: CLN8

Linked Data

• dbSNP Id: rs777093439
• ExAC: 8:1728622 C / A
• gnomAD v2: 8-1728622-C-A
• gnomAD v4: 8-1780456-C-A
• MyVariant Identifiers: chr8:g.1728622C>A (hg19) ; chr8:g.1780456C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780456C>A , CM000670.2:g.1780456C>A	GRCh38
NC_000008.10:g.1728622C>A , CM000670.1:g.1728622C>A	GRCh37
NC_000008.9:g.1716029C>A	NCBI36
NG_008656.2:g.29679C>A , LRG_691:g.29679C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.750C>A MANE Select	ENSP00000328182.4:p.Thr250=
ENST00000519254.2:c.750C>A	ENSP00000490016.1:p.Thr250=
ENST00000520991.3:c.*161C>A	ENSP00000487905.2:n.*161C>A
ENST00000635751.1:c.750C>A	ENSP00000489694.1:p.Thr250=
ENST00000635773.1:c.496+8859C>A
ENST00000635855.1:c.543+8859C>A	ENSP00000489726.1:n.543+8859C>A
ENST00000635970.1:c.750C>A	ENSP00000490439.1:p.Thr250=
ENST00000636175.1:c.343+8859C>A
ENST00000636934.1:c.543+8859C>A	ENSP00000490218.1:n.543+8859C>A
ENST00000637083.1:c.750C>A	ENSP00000490235.1:p.Thr250=
ENST00000637156.1:c.750C>A	ENSP00000490458.1:p.Thr250=
ENST00000331222.4:c.750C>A	ENSP00000328182.4:p.Thr250=
ENST00000519254.1:n.269C>A
ENST00000523237.1:n.525C>A
NM_018941.3:c.750C>A , LRG_691t1:c.750C>A	NP_061764.2:p.Thr250=
XM_005266021.3:c.750C>A	XP_005266078.1:p.Thr250=
XM_005266022.1:c.750C>A	XP_005266079.1:p.Thr250=
XM_005266023.1:c.750C>A	XP_005266080.1:p.Thr250=
XM_011534745.1:c.750C>A	XP_011533047.1:p.Thr250=
XM_011534746.1:c.750C>A	XP_011533048.1:p.Thr250=
XM_005266021.4:c.750C>A	XP_005266078.1:p.Thr250=
XM_011534746.2:c.750C>A	XP_011533048.1:p.Thr250=
NM_018941.4:c.750C>A MANE Select	NP_061764.2:p.Thr250=