Canonical Allele Identifier: CA375017328
Gene: COQ4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128323054C>A , CM000671.2:g.128323054C>A GRCh38
NC_000009.11:g.131085333C>A , CM000671.1:g.131085333C>A GRCh37
NC_000009.10:g.130125154C>A NCBI36
NG_042101.1:g.5547C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300452.8:c.109C>A MANE Select ENSP00000300452.3:p.Leu37Ile
ENST00000300452.7:c.109C>A ENSP00000300452.3:p.Leu37Ile
ENST00000372875.3:c.109C>A ENSP00000361966.3:p.Leu37Ile
ENST00000608951.5:c.109C>A ENSP00000476323.1:p.Leu37Ile
ENST00000609948.1:c.109C>A ENSP00000477292.1:p.Leu37Ile
NM_001305942.1:c.109C>A NP_001292871.1:p.Leu37Ile
NM_016035.3:c.109C>A NP_057119.2:p.Leu37Ile
NM_016035.4:c.109C>A NP_057119.2:p.Leu37Ile
XM_011518761.1:c.109C>A XP_011517063.1:p.Leu37Ile
XR_929805.1:n.455C>A
XM_017014792.1:c.109C>A XP_016870281.1:p.Leu37Ile
XM_017014793.1:c.109C>A XP_016870282.1:p.Leu37Ile
XR_001746316.2:n.459C>A
XR_929805.3:n.455C>A
NM_016035.5:c.109C>A MANE Select NP_057119.3:p.Leu37Ile
NM_001305942.2:c.109C>A NP_001292871.2:p.Leu37Ile