Canonical Allele Identifier: CA375017330
Gene: COQ4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128323055T>C , CM000671.2:g.128323055T>C GRCh38
NC_000009.11:g.131085334T>C , CM000671.1:g.131085334T>C GRCh37
NC_000009.10:g.130125155T>C NCBI36
NG_042101.1:g.5548T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300452.8:c.110T>C MANE Select ENSP00000300452.3:p.Leu37Pro
ENST00000300452.7:c.110T>C ENSP00000300452.3:p.Leu37Pro
ENST00000372875.3:c.110T>C ENSP00000361966.3:p.Leu37Pro
ENST00000608951.5:c.110T>C ENSP00000476323.1:p.Leu37Pro
ENST00000609948.1:c.110T>C ENSP00000477292.1:p.Leu37Pro
NM_001305942.1:c.110T>C NP_001292871.1:p.Leu37Pro
NM_016035.3:c.110T>C NP_057119.2:p.Leu37Pro
NM_016035.4:c.110T>C NP_057119.2:p.Leu37Pro
XM_011518761.1:c.110T>C XP_011517063.1:p.Leu37Pro
XR_929805.1:n.456T>C
XM_017014792.1:c.110T>C XP_016870281.1:p.Leu37Pro
XM_017014793.1:c.110T>C XP_016870282.1:p.Leu37Pro
XR_001746316.2:n.460T>C
XR_929805.3:n.456T>C
NM_016035.5:c.110T>C MANE Select NP_057119.3:p.Leu37Pro
NM_001305942.2:c.110T>C NP_001292871.2:p.Leu37Pro