Canonical Allele Identifier: CA321224

Gene: COQ6

Linked Data

• ClinVar Variation Id: 214236
• ClinVar RCV Id: RCV000196811
• dbSNP Id: rs863223938
• gnomAD v2: 14-74417150-G-A
• gnomAD v4: 14-73950447-G-A
• MyVariant Identifiers: chr14:g.74417150G>A (hg19) ; chr14:g.73950447G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73950447G>A , CM000676.2:g.73950447G>A	GRCh38
NC_000014.8:g.74417150G>A , CM000676.1:g.74417150G>A	GRCh37
NC_000014.7:g.73486903G>A	NCBI36
NG_032805.1:g.5514G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334571.7:c.115G>A MANE Select	ENSP00000333946.2:p.Val39Met
ENST00000238709.8:c.112G>A	ENSP00000238709.5:p.Val38Met
ENST00000334571.6:c.115G>A	ENSP00000333946.2:p.Val39Met
ENST00000394026.8:c.88+267G>A	ENSP00000377594.4:n.88+267G>A
ENST00000553462.6:n.70+159G>A
ENST00000553922.5:n.138G>A
ENST00000554153.5:c.115G>A	ENSP00000451685.1:p.Val39Met
ENST00000554193.5:n.138G>A
ENST00000554217.5:n.138G>A
ENST00000554341.6:c.88+267G>A	ENSP00000450736.2:n.88+267G>A
ENST00000554920.5:c.115G>A	ENSP00000451562.1:p.Val39Met
ENST00000555552.5:n.138G>A
ENST00000556300.6:n.149G>A
ENST00000557205.6:n.138G>A
ENST00000557584.5:c.115G>A	ENSP00000450511.1:p.Val39Met
ENST00000629426.2:c.-52G>A	ENSP00000486650.1:n.-52G>A
NM_182476.2:c.115G>A	NP_872282.1:p.Val39Met
NM_182480.2:c.88+267G>A	NP_872286.2:n.88+267G>A
XM_005267716.1:c.9G>A	XP_005267773.1:p.Trp3Ter
XM_006720156.1:c.-315G>A	XP_006720219.1:n.-315G>A
XM_011536807.1:c.115G>A	XP_011535109.1:p.Val39Met
XM_011536809.1:c.-4+267G>A	XP_011535111.1:n.-4+267G>A
XM_011536810.1:c.115G>A	XP_011535112.1:p.Val39Met
XR_943465.1:n.168G>A
XR_943466.1:n.168G>A
XM_011536807.2:c.115G>A	XP_011535109.1:p.Val39Met
XM_011536809.3:c.-4+267G>A	XP_011535111.1:n.-4+267G>A
XM_011536810.3:c.115G>A	XP_011535112.1:p.Val39Met
XM_017021351.2:c.-295G>A	XP_016876840.1:n.-295G>A
XM_017021352.2:c.-1126G>A	XP_016876841.1:n.-1126G>A
XR_001750342.1:n.138G>A
XR_943465.3:n.145G>A
XR_943466.3:n.145G>A
NM_182476.3:c.115G>A MANE Select	NP_872282.1:p.Val39Met
NM_182480.3:c.88+267G>A	NP_872286.2:n.88+267G>A