Canonical Allele Identifier: CA4599311

Gene: CLN8

Linked Data

• dbSNP Id: rs762483889
• ExAC: 8:1728439 T / C
• gnomAD v2: 8-1728439-T-C
• gnomAD v4: 8-1780273-T-C
• MyVariant Identifiers: chr8:g.1728439T>C (hg19) ; chr8:g.1780273T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780273T>C , CM000670.2:g.1780273T>C	GRCh38
NC_000008.10:g.1728439T>C , CM000670.1:g.1728439T>C	GRCh37
NC_000008.9:g.1715846T>C	NCBI36
NG_008656.2:g.29496T>C , LRG_691:g.29496T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.567T>C MANE Select	ENSP00000328182.4:p.Phe189=
ENST00000519254.2:c.567T>C	ENSP00000490016.1:p.Phe189=
ENST00000520991.3:c.629T>C	ENSP00000487905.2:p.Phe210Ser
ENST00000635751.1:c.567T>C	ENSP00000489694.1:p.Phe189=
ENST00000635773.1:c.496+8676T>C
ENST00000635855.1:c.543+8676T>C	ENSP00000489726.1:n.543+8676T>C
ENST00000635970.1:c.567T>C	ENSP00000490439.1:p.Phe189=
ENST00000636175.1:c.343+8676T>C
ENST00000636934.1:c.543+8676T>C	ENSP00000490218.1:n.543+8676T>C
ENST00000637083.1:c.567T>C	ENSP00000490235.1:p.Phe189=
ENST00000637156.1:c.567T>C	ENSP00000490458.1:p.Phe189=
ENST00000331222.4:c.567T>C	ENSP00000328182.4:p.Phe189=
ENST00000519254.1:n.86T>C
ENST00000523237.1:n.342T>C
NM_018941.3:c.567T>C , LRG_691t1:c.567T>C	NP_061764.2:p.Phe189=
XM_005266021.3:c.567T>C	XP_005266078.1:p.Phe189=
XM_005266022.1:c.567T>C	XP_005266079.1:p.Phe189=
XM_005266023.1:c.567T>C	XP_005266080.1:p.Phe189=
XM_011534745.1:c.567T>C	XP_011533047.1:p.Phe189=
XM_011534746.1:c.567T>C	XP_011533048.1:p.Phe189=
XM_005266021.4:c.567T>C	XP_005266078.1:p.Phe189=
XM_011534746.2:c.567T>C	XP_011533048.1:p.Phe189=
NM_018941.4:c.567T>C MANE Select	NP_061764.2:p.Phe189=