Canonical Allele Identifier: CA8133807
Gene: COG8 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.69334928G>A
GRCh37 chr16:g.69368831G>A
Revel Score:
ENST00000306875 (MANE Select) 0.352
gnomAD v2:
16:69368831 G / A
gnomAD v3:
16:69334928 G / A
gnomAD v4:
chr16-69334928-G-A
Joint Max Group AF 0.00010202 (AMR)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.0001374 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.69334928G>A , CM000678.2:g.69334928G>A GRCh38
NC_000016.9:g.69368831G>A , CM000678.1:g.69368831G>A GRCh37
NC_000016.8:g.67926332G>A NCBI36
NG_009013.1:g.9696C>T
NG_033043.1:g.668C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306875.10:c.1006C>T MANE Select ENSP00000305459.6:p.Arg336Trp
ENST00000306875.8:c.1006C>T ENSP00000305459.4:p.Arg336Trp
ENST00000562081.2:c.1006C>T ENSP00000455954.1:p.Arg336Trp
ENST00000562595.5:c.549+398C>T
NM_032382.4:c.1006C>T NP_115758.3:p.Arg336Trp
NM_001374871.1:c.1006C>T NP_001361800.1:p.Arg336Trp
NM_032382.5:c.1006C>T MANE Select NP_115758.3:p.Arg336Trp
NM_001379261.1:c.1006C>T NP_001366190.1:p.Arg336Trp
NM_001379262.1:c.1006C>T NP_001366191.1:p.Arg336Trp
NM_001379263.1:c.1006C>T NP_001366192.1:p.Arg336Trp
NM_001379264.1:c.1006C>T NP_001366193.1:p.Arg336Trp
NM_001379265.1:c.1006C>T NP_001366194.1:p.Arg336Trp
NM_001379266.1:c.1006C>T NP_001366195.1:p.Arg336Trp
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