Canonical Allele Identifier: CA375023002

Gene: COQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128332233G>T , CM000671.2:g.128332233G>T	GRCh38
NC_000009.11:g.131094512G>T , CM000671.1:g.131094512G>T	GRCh37
NC_000009.10:g.130134333G>T	NCBI36
NG_042101.1:g.14726G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300452.8:c.483G>T MANE Select	ENSP00000300452.3:p.Glu161Asp
ENST00000300452.7:c.483G>T	ENSP00000300452.3:p.Glu161Asp
ENST00000461102.1:n.1822G>T
NM_001305942.1:c.*3-1241G>T	NP_001292871.1:n.*3-1241G>T
NM_016035.3:c.483G>T	NP_057119.2:p.Glu161Asp
NM_016035.4:c.483G>T	NP_057119.2:p.Glu161Asp
XR_929805.1:n.749-617G>T
XM_017014792.1:c.*3-617G>T	XP_016870281.1:n.*3-617G>T
XR_001746316.2:n.736G>T
XR_929805.3:n.749-617G>T
NM_016035.5:c.483G>T MANE Select	NP_057119.3:p.Glu161Asp
NM_001305942.2:c.*3-1241G>T	NP_001292871.2:n.*3-1241G>T