Canonical Allele Identifier: CA223835
Gene: COG8 HGNC NCBI

Linked Data

ClinVar Variation Id: 96219
ClinVar RCV Id: RCV000082298 RCV000723761 RCV001317887 RCV003964945
dbSNP Id: rs143411142
ExAC: 16:69364899 G / A
gnomAD v2: 16-69364899-G-A
gnomAD v3: 16-69330996-G-A
gnomAD v4: 16-69330996-G-A
MyVariant Identifiers: chr16:g.69364899G>A (hg19) chr16:g.69364899_69364901delinsATC (hg19) chr16:g.69330996G>A (hg38) chr16:g.69330996_69330998delinsATC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.69330996G>A , CM000678.2:g.69330996G>A GRCh38
NC_000016.9:g.69364899G>A , CM000678.1:g.69364899G>A GRCh37
NC_000016.8:g.67922400G>A NCBI36
NG_009013.1:g.13628C>T
NG_033043.1:g.4600C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306875.10:c.1682C>T MANE Select ENSP00000305459.6:p.Thr561Met
ENST00000306875.8:c.1682C>T ENSP00000305459.4:p.Thr561Met
ENST00000562595.5:c.549+4330C>T
ENST00000562949.1:c.352-1817C>T ENSP00000457718.1:n.352-1817C>T
NM_032382.4:c.1682C>T NP_115758.3:p.Thr561Met
NM_032382.5:c.1682C>T MANE Select NP_115758.3:p.Thr561Met
NM_001379261.1:c.1823C>T NP_001366190.1:p.Thr608Met
NM_001379262.1:c.1682C>T NP_001366191.1:p.Thr561Met
NM_001379263.1:c.1721C>T NP_001366192.1:p.Thr574Met
NM_001379264.1:c.1682C>T NP_001366193.1:p.Thr561Met
NM_001379265.1:c.1582+1718C>T NP_001366194.1:n.1582+1718C>T
NM_001379266.1:c.1414-1817C>T NP_001366195.1:n.1414-1817C>T
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