Canonical Allele Identifier: CA375017452

Gene: COQ4

Linked Data

• MyVariant Identifiers: chr9:g.131085371A>T (hg19) ; chr9:g.128323092A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128323092A>T , CM000671.2:g.128323092A>T	GRCh38
NC_000009.11:g.131085371A>T , CM000671.1:g.131085371A>T	GRCh37
NC_000009.10:g.130125192A>T	NCBI36
NG_042101.1:g.5585A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300452.8:c.147A>T MANE Select	ENSP00000300452.3:p.Lys49Asn
ENST00000300452.7:c.147A>T	ENSP00000300452.3:p.Lys49Asn
ENST00000372875.3:c.147A>T	ENSP00000361966.3:p.Lys49Asn
ENST00000608951.5:c.147A>T	ENSP00000476323.1:p.Lys49Asn
ENST00000609948.1:c.147A>T	ENSP00000477292.1:p.Lys49Asn
NM_001305942.1:c.147A>T	NP_001292871.1:p.Lys49Asn
NM_016035.3:c.147A>T	NP_057119.2:p.Lys49Asn
NM_016035.4:c.147A>T	NP_057119.2:p.Lys49Asn
XM_011518761.1:c.147A>T	XP_011517063.1:p.Lys49Asn
XR_929805.1:n.493A>T
XM_017014792.1:c.147A>T	XP_016870281.1:p.Lys49Asn
XM_017014793.1:c.147A>T	XP_016870282.1:p.Lys49Asn
XR_001746316.2:n.497A>T
XR_929805.3:n.493A>T
NM_016035.5:c.147A>T MANE Select	NP_057119.3:p.Lys49Asn
NM_001305942.2:c.147A>T	NP_001292871.2:p.Lys49Asn