Canonical Allele Identifier: CA375023820

Gene: COQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128332930C>T , CM000671.2:g.128332930C>T	GRCh38
NC_000009.11:g.131095209C>T , CM000671.1:g.131095209C>T	GRCh37
NC_000009.10:g.130135030C>T	NCBI36
NG_042101.1:g.15423C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016035.5:c.613C>T MANE Select	NP_057119.3:p.Arg205Ter
ENST00000300452.8:c.613C>T MANE Select	ENSP00000300452.3:p.Arg205Ter
NM_001305942.1:c.*3-544C>T	NP_001292871.1:n.*3-544C>T
NM_001305942.2:c.*3-544C>T	NP_001292871.2:n.*3-544C>T
NM_016035.3:c.613C>T	NP_057119.2:p.Arg205Ter
NM_016035.4:c.613C>T	NP_057119.2:p.Arg205Ter
ENST00000300452.7:c.613C>T	ENSP00000300452.3:p.Arg205Ter
ENST00000461102.1:n.2519C>T
XM_017014792.1:c.*83C>T	XP_016870281.1:n.*83C>T
XR_001746316.2:n.866C>T
XR_929805.1:n.829C>T
XR_929805.3:n.829C>T