Canonical Allele Identifier: CA7264223

Gene: COQ6 ENTPD5

Linked Data

• ClinVar Variation Id: 1497342
• ClinVar RCV Id: RCV001992334
• dbSNP Id: rs780055948
• ExAC: 14:74424861 G / A
• gnomAD v2: 14-74424861-G-A
• gnomAD v3: 14-73958158-G-A
• gnomAD v4: 14-73958158-G-A
• MyVariant Identifiers: chr14:g.74424861G>A (hg19) ; chr14:g.73958158G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73958158G>A , CM000676.2:g.73958158G>A	GRCh38
NC_000014.8:g.74424861G>A , CM000676.1:g.74424861G>A	GRCh37
NC_000014.7:g.73494614G>A	NCBI36
NG_032805.1:g.13225G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334571.7:c.493G>A (COQ6) MANE Select	ENSP00000333946.2:p.Val165Ile
ENST00000238709.8:c.490G>A (COQ6)	ENSP00000238709.5:p.Val164Ile
ENST00000334571.6:c.493G>A (COQ6)	ENSP00000333946.2:p.Val165Ile
ENST00000394026.8:c.418G>A (COQ6)	ENSP00000377594.4:p.Val140Ile
ENST00000553462.6:n.341G>A (COQ6)
ENST00000554153.5:c.*98G>A (COQ6)	ENSP00000451685.1:n.*98G>A
ENST00000554320.1:c.268G>A (COQ6)	ENSP00000451123.1:p.Val90Ile
ENST00000554341.6:c.*98G>A (COQ6)	ENSP00000450736.2:n.*98G>A
ENST00000554920.5:c.481+2230G>A (COQ6)	ENSP00000451562.1:n.481+2230G>A
ENST00000555511.5:n.611G>A (COQ6)
ENST00000556300.6:n.527G>A (COQ6)
ENST00000557205.6:n.457G>A (COQ6)
ENST00000557325.5:c.*1372C>T (ENTPD5)	ENSP00000451810.1:n.*1372C>T
ENST00000557584.5:c.*98G>A (COQ6)	ENSP00000450511.1:n.*98G>A
ENST00000629426.2:c.268G>A (COQ6)	ENSP00000486650.1:p.Val90Ile
NM_182476.2:c.493G>A (COQ6)	NP_872282.1:p.Val165Ile
NM_182480.2:c.418G>A (COQ6)	NP_872286.2:p.Val140Ile
XM_005267716.1:c.328G>A (COQ6)	XP_005267773.1:p.Val110Ile
XM_006720156.1:c.166G>A (COQ6)	XP_006720219.1:p.Val56Ile
XM_011536807.1:c.493G>A (COQ6)	XP_011535109.1:p.Val165Ile
XM_011536808.1:c.268G>A (COQ6)	XP_011535110.1:p.Val90Ile
XM_011536809.1:c.268G>A (COQ6)	XP_011535111.1:p.Val90Ile
XM_011536810.1:c.493G>A (COQ6)	XP_011535112.1:p.Val165Ile
XM_011536811.1:c.73-813G>A (COQ6)	XP_011535113.1:n.73-813G>A
XR_943465.1:n.546G>A (COQ6)
XR_943466.1:n.546G>A (COQ6)
NM_001330189.1:c.*1372C>T (ENTPD5)	NP_001317118.1:n.*1372C>T
XM_011536807.2:c.493G>A (COQ6)	XP_011535109.1:p.Val165Ile
XM_011536808.2:c.268G>A (COQ6)	XP_011535110.1:p.Val90Ile
XM_011536809.3:c.268G>A (COQ6)	XP_011535111.1:p.Val90Ile
XM_011536810.3:c.493G>A (COQ6)	XP_011535112.1:p.Val165Ile
XM_017021351.2:c.73-813G>A (COQ6)	XP_016876840.1:n.73-813G>A
XM_017021352.2:c.-807G>A (COQ6)	XP_016876841.1:n.-807G>A
XM_024449619.1:c.-256G>A (COQ6)	XP_024305387.1:n.-256G>A
XR_001750342.1:n.457G>A (COQ6)
XR_943465.3:n.523G>A (COQ6)
XR_943466.3:n.523G>A (COQ6)
NM_001330189.2:c.*1372C>T (ENTPD5)	NP_001317118.1:n.*1372C>T
NM_182476.3:c.493G>A (COQ6) MANE Select	NP_872282.1:p.Val165Ile
NM_001382258.1:c.1201-2571C>T (ENTPD5)	NP_001369187.1:n.1201-2571C>T
NM_001382259.1:c.*1372C>T (ENTPD5)	NP_001369188.1:n.*1372C>T
NM_001382260.1:c.*1372C>T (ENTPD5)	NP_001369189.1:n.*1372C>T
NM_001382262.1:c.1201-2330C>T (ENTPD5)	NP_001369191.1:n.1201-2330C>T
NM_182480.3:c.418G>A (COQ6)	NP_872286.2:p.Val140Ile