Canonical Allele Identifier: CA375017485

Gene: COQ4

Linked Data

• MyVariant Identifiers: chr9:g.131085381G>C (hg19) ; chr9:g.128323102G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128323102G>C , CM000671.2:g.128323102G>C	GRCh38
NC_000009.11:g.131085381G>C , CM000671.1:g.131085381G>C	GRCh37
NC_000009.10:g.130125202G>C	NCBI36
NG_042101.1:g.5595G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300452.8:c.157G>C MANE Select	ENSP00000300452.3:p.Ala53Pro
ENST00000300452.7:c.157G>C	ENSP00000300452.3:p.Ala53Pro
ENST00000372875.3:c.157G>C	ENSP00000361966.3:p.Ala53Pro
ENST00000608951.5:c.157G>C	ENSP00000476323.1:p.Ala53Pro
ENST00000609948.1:c.157G>C	ENSP00000477292.1:p.Ala53Pro
NM_001305942.1:c.157G>C	NP_001292871.1:p.Ala53Pro
NM_016035.3:c.157G>C	NP_057119.2:p.Ala53Pro
NM_016035.4:c.157G>C	NP_057119.2:p.Ala53Pro
XM_011518761.1:c.157G>C	XP_011517063.1:p.Ala53Pro
XR_929805.1:n.503G>C
XM_017014792.1:c.157G>C	XP_016870281.1:p.Ala53Pro
XM_017014793.1:c.157G>C	XP_016870282.1:p.Ala53Pro
XR_001746316.2:n.507G>C
XR_929805.3:n.503G>C
NM_016035.5:c.157G>C MANE Select	NP_057119.3:p.Ala53Pro
NM_001305942.2:c.157G>C	NP_001292871.2:p.Ala53Pro