Canonical Allele Identifier: CA5260494
Community Standard Title: NM_016035.5(COQ4):c.300-51G>A
Gene: COQ4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128325728G>A , CM000671.2:g.128325728G>A GRCh38
NC_000009.11:g.131088007G>A , CM000671.1:g.131088007G>A GRCh37
NC_000009.10:g.130127828G>A NCBI36
NG_042101.1:g.8221G>A

Transcript Alleles

HGVS Amino-acid Change
NM_016035.5:c.300-51G>A MANE Select NP_057119.3:n.300-51G>A
ENST00000300452.8:c.300-51G>A MANE Select ENSP00000300452.3:n.300-51G>A
NM_001305942.1:c.203-51G>A NP_001292871.1:n.203-51G>A
NM_001305942.2:c.203-51G>A NP_001292871.2:n.203-51G>A
NM_016035.3:c.300-51G>A NP_057119.2:n.300-51G>A
NM_016035.4:c.300-51G>A NP_057119.2:n.300-51G>A
ENST00000300452.7:c.300-51G>A ENSP00000300452.3:n.300-51G>A
ENST00000372875.3:c.300-51G>A ENSP00000361966.3:n.300-51G>A
XM_011518761.1:c.300-51G>A XP_011517063.1:n.300-51G>A
XM_017014792.1:c.203-51G>A XP_016870281.1:n.203-51G>A
XM_017014793.1:c.203-51G>A XP_016870282.1:n.203-51G>A
XR_001746316.2:n.553-51G>A
XR_929805.1:n.646-51G>A
XR_929805.3:n.646-51G>A