Canonical Allele Identifier: CA200341697

Gene: COQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128332219C>A , CM000671.2:g.128332219C>A	GRCh38
NC_000009.11:g.131094498C>A , CM000671.1:g.131094498C>A	GRCh37
NC_000009.10:g.130134319C>A	NCBI36
NG_042101.1:g.14712C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016035.5:c.469C>A MANE Select	NP_057119.3:p.Gln157Lys
ENST00000300452.8:c.469C>A MANE Select	ENSP00000300452.3:p.Gln157Lys
NM_001305942.1:c.*3-1255C>A	NP_001292871.1:n.*3-1255C>A
NM_001305942.2:c.*3-1255C>A	NP_001292871.2:n.*3-1255C>A
NM_016035.3:c.469C>A	NP_057119.2:p.Gln157Lys
NM_016035.4:c.469C>A	NP_057119.2:p.Gln157Lys
ENST00000300452.7:c.469C>A	ENSP00000300452.3:p.Gln157Lys
ENST00000461102.1:n.1808C>A
XM_017014792.1:c.*3-631C>A	XP_016870281.1:n.*3-631C>A
XR_001746316.2:n.722C>A
XR_929805.1:n.749-631C>A
XR_929805.3:n.749-631C>A