Canonical Allele Identifier: CA223835
Gene: COG8 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.69330996G>A
GRCh38 chr16:g.69330996_69330998delinsATC
GRCh37 chr16:g.69364899G>A
GRCh37 chr16:g.69364899_69364901delinsATC
Revel Score:
ENST00000306875 (MANE Select) 0.051
gnomAD v2:
16:69364899 G / A
gnomAD v3:
16:69330996 G / A
gnomAD v4:
chr16-69330996-G-A
Joint Max Group AF 0.00161419 (AFR)
Genomes Max Group AF 0.00151832 (AFR)
Exomes Max Group AF 0.00151134 (AFR)
JSON-LD

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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