Canonical Allele Identifier: CA2580091882

Gene: COG8

Linked Data

• ClinVar Variation Id: 2194054
• ClinVar RCV Id: RCV002647314
• gnomAD v4: 16-69331101-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.69331101C>T , CM000678.2:g.69331101C>T	GRCh38
NC_000016.9:g.69365004C>T , CM000678.1:g.69365004C>T	GRCh37
NC_000016.8:g.67922505C>T	NCBI36
NG_009013.1:g.13523G>A
NG_033043.1:g.4495G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306875.10:c.1583-6G>A MANE Select	ENSP00000305459.6:n.1583-6G>A
ENST00000306875.8:c.1583-6G>A	ENSP00000305459.4:n.1583-6G>A
ENST00000562595.5:c.549+4225G>A
ENST00000562949.1:c.352-1922G>A	ENSP00000457718.1:n.352-1922G>A
NM_032382.4:c.1583-6G>A	NP_115758.3:n.1583-6G>A
NM_032382.5:c.1583-6G>A MANE Select	NP_115758.3:n.1583-6G>A
NM_001379261.1:c.1724-6G>A	NP_001366190.1:n.1724-6G>A
NM_001379262.1:c.1583-6G>A	NP_001366191.1:n.1583-6G>A
NM_001379263.1:c.1616G>A	NP_001366192.1:p.Gly539Glu
NM_001379264.1:c.1583-6G>A	NP_001366193.1:n.1583-6G>A
NM_001379265.1:c.1582+1613G>A	NP_001366194.1:n.1582+1613G>A
NM_001379266.1:c.1414-1922G>A	NP_001366195.1:n.1414-1922G>A