Allele Registry

Canonical Allele Identifier: CA116403

Gene: COQ8A HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.226986606dupG

GRCh37 chr1:g.227174307dupG

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000003825

ClinVar Variation:

3640

dbSNP:

387906298

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226986606dup , CM000663.2:g.226986606dup	GRCh38
NC_000001.10:g.227174307dup , CM000663.1:g.227174307dup	GRCh37
NC_000001.9:g.225240930dup	NCBI36
NG_012825.1:g.51370dup
NG_012825.2:g.94071dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1813dup MANE Select	ENSP00000355739.3:p.Glu605GlyfsTer?
ENST00000366779.6:c.*6540dup	ENSP00000355741.2:n.*6540dup
ENST00000366777.3:c.1813dup	ENSP00000355739.3:p.Glu605GlyfsTer?
ENST00000366778.5:c.1657dup	ENSP00000355740.1:p.Glu553GlyfsTer?
ENST00000366779.5:c.1813dup	ENSP00000355741.1:p.Glu605GlyfsTer?
ENST00000478406.5:n.2675dup
ENST00000479852.1:n.1000dup
ENST00000485462.5:n.1203dup
NM_020247.4:c.1813dup	NP_064632.2:p.Glu605GlyfsTer?
XM_005273201.1:c.1813dup	XP_005273258.1:p.Glu605GlyfsTer?
XM_011544238.1:c.1813dup	XP_011542540.1:p.Glu605GlyfsTer?
XM_011544239.1:c.1813dup	XP_011542541.1:p.Glu605GlyfsTer?
XM_011544240.1:c.1813dup	XP_011542542.1:p.Glu605GlyfsTer?
XM_011544241.1:c.1813dup	XP_011542543.1:p.Glu605GlyfsTer?
XM_011544239.2:c.1813dup	XP_011542541.1:p.Glu605GlyfsTer?
XM_011544241.2:c.1813dup	XP_011542543.1:p.Glu605GlyfsTer?
XM_017001852.1:c.1813dup	XP_016857341.1:p.Glu605GlyfsTer?
XM_024448517.1:c.1813dup	XP_024304285.1:p.Glu605GlyfsTer?
XM_024448518.1:c.1813dup	XP_024304286.1:p.Glu605GlyfsTer?
NM_020247.5:c.1813dup MANE Select	NP_064632.2:p.Glu605GlyfsTer?

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