Canonical Allele Identifier: CA199146
Gene: COQ4 HGNC NCBI

Linked Data

ClinVar Variation Id: 189202
ClinVar RCV Id: RCV000169637
dbSNP Id: rs786204770
MyVariant Identifiers: chr9:g.131085379T>C (hg19) chr9:g.128323100T>C (hg38)
PubMed: PMID:25658047 PMID:28125198
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128323100T>C , CM000671.2:g.128323100T>C GRCh38
NC_000009.11:g.131085379T>C , CM000671.1:g.131085379T>C GRCh37
NC_000009.10:g.130125200T>C NCBI36
NG_042101.1:g.5593T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000300452.8:c.155T>C MANE Select ENSP00000300452.3:p.Leu52Ser
ENST00000300452.7:c.155T>C ENSP00000300452.3:p.Leu52Ser
ENST00000372875.3:c.155T>C ENSP00000361966.3:p.Leu52Ser
ENST00000608951.5:c.155T>C ENSP00000476323.1:p.Leu52Ser
ENST00000609948.1:c.155T>C ENSP00000477292.1:p.Leu52Ser
NM_001305942.1:c.155T>C NP_001292871.1:p.Leu52Ser
NM_016035.3:c.155T>C NP_057119.2:p.Leu52Ser
NM_016035.4:c.155T>C NP_057119.2:p.Leu52Ser
XM_011518761.1:c.155T>C XP_011517063.1:p.Leu52Ser
XR_929805.1:n.501T>C
XM_017014792.1:c.155T>C XP_016870281.1:p.Leu52Ser
XM_017014793.1:c.155T>C XP_016870282.1:p.Leu52Ser
XR_001746316.2:n.505T>C
XR_929805.3:n.501T>C
NM_016035.5:c.155T>C MANE Select NP_057119.3:p.Leu52Ser
NM_001305942.2:c.155T>C NP_001292871.2:p.Leu52Ser
Search 100 bp 5'
Search 100 bp 3'