Canonical Allele Identifier: CA1880233661
Community Standard Title: NM_016035.5(COQ4):c.421C= (p.Arg141=)
Gene: COQ4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128332171C= , CM000671.2:g.128332171C= GRCh38
NC_000009.11:g.131094450C= , CM000671.1:g.131094450C= GRCh37
NC_000009.10:g.130134271C= NCBI36
NG_042101.1:g.14664C=

Transcript Alleles

HGVS Amino-acid Change
NM_016035.5:c.421C= MANE Select NP_057119.3:p.Arg141=
ENST00000300452.8:c.421C= MANE Select ENSP00000300452.3:p.Arg141=
NM_001305942.1:c.*3-1303C= NP_001292871.1:n.*3-1303C=
NM_001305942.2:c.*3-1303C= NP_001292871.2:n.*3-1303C=
NM_016035.3:c.421C= NP_057119.2:p.Arg141=
NM_016035.4:c.421C= NP_057119.2:p.Arg141=
ENST00000300452.7:c.421C= ENSP00000300452.3:p.Arg141=
ENST00000461102.1:n.1760C=
XM_017014792.1:c.*3-679C= XP_016870281.1:n.*3-679C=
XR_001746316.2:n.674C=
XR_929805.1:n.749-679C=
XR_929805.3:n.749-679C=