Canonical Allele Identifier: CA5260527

Gene: COQ4

Linked Data

• ClinVar Variation Id: 380532
• ClinVar RCV Id: RCV000531193
• dbSNP Id: rs138917651
• ExAC: 9:131088115 G / T
• gnomAD v2: 9-131088115-G-T
• gnomAD v3: 9-128325836-G-T
• gnomAD v4: 9-128325836-G-T
• MyVariant Identifiers: chr9:g.131088115G>T (hg19) ; chr9:g.128325836G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128325836G>T , CM000671.2:g.128325836G>T	GRCh38
NC_000009.11:g.131088115G>T , CM000671.1:g.131088115G>T	GRCh37
NC_000009.10:g.130127936G>T	NCBI36
NG_042101.1:g.8329G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000300452.8:c.357G>T MANE Select	ENSP00000300452.3:p.Pro119=
ENST00000300452.7:c.357G>T	ENSP00000300452.3:p.Pro119=
ENST00000372875.3:c.357G>T	ENSP00000361966.3:p.Pro119=
NM_001305942.1:c.260G>T	NP_001292871.1:p.Arg87Leu
NM_016035.3:c.357G>T	NP_057119.2:p.Pro119=
NM_016035.4:c.357G>T	NP_057119.2:p.Pro119=
XM_011518761.1:c.357G>T	XP_011517063.1:p.Pro119=
XR_929805.1:n.703G>T
XM_017014792.1:c.260G>T	XP_016870281.1:p.Arg87Leu
XM_017014793.1:c.260G>T	XP_016870282.1:p.Arg87Leu
XR_001746316.2:n.610G>T
XR_929805.3:n.703G>T
NM_016035.5:c.357G>T MANE Select	NP_057119.3:p.Pro119=
NM_001305942.2:c.260G>T	NP_001292871.2:p.Arg87Leu