Canonical Allele Identifier: CA4599305

Gene: CLN8

Linked Data

• ClinVar Variation Id: 450759
• ClinVar RCV Id: RCV000523588 ; RCV000691963 ; RCV002527616 ; RCV003387869 ; RCV001829498
• dbSNP Id: rs541994118
• ExAC: 8:1728417 C / T
• gnomAD v2: 8-1728417-C-T
• gnomAD v3: 8-1780251-C-T
• gnomAD v4: 8-1780251-C-T
• COSMIC: COSM3646874 ; COSM3646875
• MyVariant Identifiers: chr8:g.1728417C>T (hg19) ; chr8:g.1780251C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780251C>T , CM000670.2:g.1780251C>T	GRCh38
NC_000008.10:g.1728417C>T , CM000670.1:g.1728417C>T	GRCh37
NC_000008.9:g.1715824C>T	NCBI36
NG_008656.2:g.29474C>T , LRG_691:g.29474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.545C>T MANE Select	ENSP00000328182.4:p.Ala182Val
ENST00000519254.2:c.545C>T	ENSP00000490016.1:p.Ala182Val
ENST00000520991.3:c.607C>T	ENSP00000487905.2:p.Arg203Trp
ENST00000635751.1:c.545C>T	ENSP00000489694.1:p.Ala182Val
ENST00000635773.1:c.496+8654C>T
ENST00000635855.1:c.543+8654C>T	ENSP00000489726.1:n.543+8654C>T
ENST00000635970.1:c.545C>T	ENSP00000490439.1:p.Ala182Val
ENST00000636175.1:c.343+8654C>T
ENST00000636934.1:c.543+8654C>T	ENSP00000490218.1:n.543+8654C>T
ENST00000637083.1:c.545C>T	ENSP00000490235.1:p.Ala182Val
ENST00000637156.1:c.545C>T	ENSP00000490458.1:p.Ala182Val
ENST00000331222.4:c.545C>T	ENSP00000328182.4:p.Ala182Val
ENST00000519254.1:n.64C>T
ENST00000523237.1:n.320C>T
NM_018941.3:c.545C>T , LRG_691t1:c.545C>T	NP_061764.2:p.Ala182Val
XM_005266021.3:c.545C>T	XP_005266078.1:p.Ala182Val
XM_005266022.1:c.545C>T	XP_005266079.1:p.Ala182Val
XM_005266023.1:c.545C>T	XP_005266080.1:p.Ala182Val
XM_011534745.1:c.545C>T	XP_011533047.1:p.Ala182Val
XM_011534746.1:c.545C>T	XP_011533048.1:p.Ala182Val
XM_005266021.4:c.545C>T	XP_005266078.1:p.Ala182Val
XM_011534746.2:c.545C>T	XP_011533048.1:p.Ala182Val
NM_018941.4:c.545C>T MANE Select	NP_061764.2:p.Ala182Val