Canonical Allele Identifier: CA375018207

Gene: COQ4

Linked Data

• MyVariant Identifiers: chr9:g.131085477T>C (hg19) ; chr9:g.128323198T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128323198T>C , CM000671.2:g.128323198T>C	GRCh38
NC_000009.11:g.131085477T>C , CM000671.1:g.131085477T>C	GRCh37
NC_000009.10:g.130125298T>C	NCBI36
NG_042101.1:g.5691T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300452.8:c.202+51T>C MANE Select	ENSP00000300452.3:n.202+51T>C
ENST00000300452.7:c.202+51T>C	ENSP00000300452.3:n.202+51T>C
ENST00000372875.3:c.202+51T>C	ENSP00000361966.3:n.202+51T>C
ENST00000608951.5:c.202+51T>C	ENSP00000476323.1:n.202+51T>C
ENST00000609948.1:c.253T>C	ENSP00000477292.1:p.Cys85Arg
NM_001305942.1:c.202+51T>C	NP_001292871.1:n.202+51T>C
NM_016035.3:c.202+51T>C	NP_057119.2:n.202+51T>C
NM_016035.4:c.202+51T>C	NP_057119.2:n.202+51T>C
XM_011518761.1:c.202+51T>C	XP_011517063.1:n.202+51T>C
XR_929805.1:n.548+51T>C
XM_017014792.1:c.202+51T>C	XP_016870281.1:n.202+51T>C
XM_017014793.1:c.202+51T>C	XP_016870282.1:n.202+51T>C
XR_001746316.2:n.552+51T>C
XR_929805.3:n.548+51T>C
NM_016035.5:c.202+51T>C MANE Select	NP_057119.3:n.202+51T>C
NM_001305942.2:c.202+51T>C	NP_001292871.2:n.202+51T>C