Canonical Allele Identifier: CA5260544
Gene: COQ4 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.128325882G>C
GRCh37 chr9:g.131088161G>C
Revel Score:
ENST00000372875 0.266
gnomAD v2:
9:131088161 G / C
gnomAD v4:
chr9-128325882-G-C
Joint Max Group AF 0.00005788 (EAS)
Exomes Max Group AF 0.00006511 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128325882G>C , CM000671.2:g.128325882G>C GRCh38
NC_000009.11:g.131088161G>C , CM000671.1:g.131088161G>C GRCh37
NC_000009.10:g.130127982G>C NCBI36
NG_042101.1:g.8375G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300452.8:c.402+1G>C MANE Select ENSP00000300452.3:n.402+1G>C
ENST00000300452.7:c.402+1G>C ENSP00000300452.3:n.402+1G>C
ENST00000372875.3:c.403G>C ENSP00000361966.3:p.Val135Leu
NM_001305942.1:c.*2+1G>C NP_001292871.1:n.*2+1G>C
NM_016035.3:c.402+1G>C NP_057119.2:n.402+1G>C
NM_016035.4:c.402+1G>C NP_057119.2:n.402+1G>C
XM_011518761.1:c.402+1G>C XP_011517063.1:n.402+1G>C
XR_929805.1:n.748+1G>C
XM_017014792.1:c.*2+1G>C XP_016870281.1:n.*2+1G>C
XM_017014793.1:c.*2+1G>C XP_016870282.1:n.*2+1G>C
XR_001746316.2:n.655+1G>C
XR_929805.3:n.748+1G>C
NM_016035.5:c.402+1G>C MANE Select NP_057119.3:n.402+1G>C
NM_001305942.2:c.*2+1G>C NP_001292871.2:n.*2+1G>C
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