Canonical Allele Identifier: CA5260357
Community Standard Title: NM_016035.5(COQ4):c.1A>G (p.Met1Val)
Gene: COQ4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128322859A>G , CM000671.2:g.128322859A>G GRCh38
NC_000009.11:g.131085138A>G , CM000671.1:g.131085138A>G GRCh37
NC_000009.10:g.130124959A>G NCBI36
NG_042101.1:g.5352A>G

Transcript Alleles

HGVS Amino-acid Change
NM_016035.5:c.1A>G MANE Select NP_057119.3:p.Met1Val
ENST00000300452.8:c.1A>G MANE Select ENSP00000300452.3:p.Met1Val
NM_001305942.1:c.1A>G NP_001292871.1:p.Met1Val
NM_001305942.2:c.1A>G NP_001292871.2:p.Met1Val
NM_016035.3:c.1A>G NP_057119.2:p.Met1Val
NM_016035.4:c.1A>G NP_057119.2:p.Met1Val
ENST00000300452.7:c.1A>G ENSP00000300452.3:p.Met1Val
ENST00000372875.3:c.1A>G ENSP00000361966.3:p.Met1Val
ENST00000608951.5:c.1A>G ENSP00000476323.1:p.Met1Val
ENST00000609948.1:c.1A>G ENSP00000477292.1:p.Met1Val
XM_011518761.1:c.1A>G XP_011517063.1:p.Met1Val
XM_017014792.1:c.1A>G XP_016870281.1:p.Met1Val
XM_017014793.1:c.1A>G XP_016870282.1:p.Met1Val
XR_001746316.2:n.351A>G
XR_929805.1:n.347A>G
XR_929805.3:n.347A>G