Canonical Allele Identifier: CA5260522

Gene: COQ4

Linked Data

• dbSNP Id: rs530213004
• ExAC: 9:131088089 G / C
• gnomAD v2: 9-131088089-G-C
• gnomAD v3: 9-128325810-G-C
• gnomAD v4: 9-128325810-G-C
• MyVariant Identifiers: chr9:g.131088089G>C (hg19) ; chr9:g.128325810G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128325810G>C , CM000671.2:g.128325810G>C	GRCh38
NC_000009.11:g.131088089G>C , CM000671.1:g.131088089G>C	GRCh37
NC_000009.10:g.130127910G>C	NCBI36
NG_042101.1:g.8303G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000300452.8:c.331G>C MANE Select	ENSP00000300452.3:p.Asp111His
ENST00000300452.7:c.331G>C	ENSP00000300452.3:p.Asp111His
ENST00000372875.3:c.331G>C	ENSP00000361966.3:p.Asp111His
NM_001305942.1:c.234G>C	NP_001292871.1:p.Ser78=
NM_016035.3:c.331G>C	NP_057119.2:p.Asp111His
NM_016035.4:c.331G>C	NP_057119.2:p.Asp111His
XM_011518761.1:c.331G>C	XP_011517063.1:p.Asp111His
XR_929805.1:n.677G>C
XM_017014792.1:c.234G>C	XP_016870281.1:p.Ser78=
XM_017014793.1:c.234G>C	XP_016870282.1:p.Ser78=
XR_001746316.2:n.584G>C
XR_929805.3:n.677G>C
NM_016035.5:c.331G>C MANE Select	NP_057119.3:p.Asp111His
NM_001305942.2:c.234G>C	NP_001292871.2:p.Ser78=