Canonical Allele Identifier: CA8133938
Gene: COG8 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.69336565C>T
GRCh37 chr16:g.69370468C>T
gnomAD v2:
16:69370468 C / T
gnomAD v3:
16:69336565 C / T
gnomAD v4:
chr16-69336565-C-T
Joint Max Group AF 0.00014771 (NFE)
Genomes Max Group AF 0.00011229 (NFE)
Exomes Max Group AF 0.00014591 (NFE)
ClinVar RCV:
RCV000841534
RCV001119763
ClinVar Variation:
468871
dbSNP:
187905134
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.69336565C>T , CM000678.2:g.69336565C>T GRCh38
NC_000016.9:g.69370468C>T , CM000678.1:g.69370468C>T GRCh37
NC_000016.8:g.67927969C>T NCBI36
NG_009013.1:g.8059G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306875.10:c.525G>A MANE Select ENSP00000305459.6:p.Leu175=
ENST00000306875.8:c.525G>A ENSP00000305459.4:p.Leu175=
ENST00000562081.2:c.525G>A ENSP00000455954.1:p.Leu175=
ENST00000562595.5:c.466G>A
ENST00000563634.1:c.150G>A ENSP00000454500.1:p.Leu50=
ENST00000564737.1:c.614G>A
ENST00000567493.1:c.105G>A ENSP00000464395.1:p.Leu35=
ENST00000570293.5:c.464G>A ENSP00000464417.1:n.464G>A
NM_032382.4:c.525G>A NP_115758.3:p.Leu175=
NM_001374871.1:c.525G>A NP_001361800.1:p.Leu175=
NM_032382.5:c.525G>A MANE Select NP_115758.3:p.Leu175=
NM_001379261.1:c.525G>A NP_001366190.1:p.Leu175=
NM_001379262.1:c.525G>A NP_001366191.1:p.Leu175=
NM_001379263.1:c.525G>A NP_001366192.1:p.Leu175=
NM_001379264.1:c.525G>A NP_001366193.1:p.Leu175=
NM_001379265.1:c.525G>A NP_001366194.1:p.Leu175=
NM_001379266.1:c.525G>A NP_001366195.1:p.Leu175=
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