Canonical Allele Identifier: CA405958156

Gene: COQ8B

Linked Data

• gnomAD v4: 19-40692370-A-G
• MyVariant Identifiers: chr19:g.41198275A>G (hg19) ; chr19:g.40692370A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692370A>G , CM000681.2:g.40692370A>G	GRCh38
NC_000019.9:g.41198275A>G , CM000681.1:g.41198275A>G	GRCh37
NC_000019.8:g.45890115A>G	NCBI36
NG_027800.1:g.29516T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1300T>C MANE Select	ENSP00000315118.3:p.Phe434Leu
ENST00000593724.2:n.3123T>C
ENST00000594490.6:c.1222T>C	ENSP00000471310.2:p.Phe408Leu
ENST00000594720.6:c.1300T>C	ENSP00000470876.2:p.Phe434Leu
ENST00000596455.6:n.1592T>C
ENST00000601967.6:c.1300T>C	ENSP00000470916.2:p.Phe434Leu
ENST00000676555.1:c.*725T>C	ENSP00000503387.1:n.*725T>C
ENST00000676578.1:c.*1042T>C	ENSP00000504076.1:n.*1042T>C
ENST00000676960.1:n.1425T>C
ENST00000676962.1:n.1579T>C
ENST00000677018.1:c.1300T>C	ENSP00000503480.1:p.Phe434Leu
ENST00000677039.1:n.3503T>C
ENST00000677399.1:n.1742T>C
ENST00000677496.1:c.973T>C	ENSP00000504773.1:p.Phe325Leu
ENST00000677517.1:c.973T>C	ENSP00000503519.1:p.Phe325Leu
ENST00000677633.1:c.*723T>C	ENSP00000503645.1:n.*723T>C
ENST00000677800.1:c.*4404T>C	ENSP00000503794.1:n.*4404T>C
ENST00000678057.1:c.*864T>C	ENSP00000503762.1:n.*864T>C
ENST00000678119.1:n.1494T>C
ENST00000678166.1:n.1443T>C
ENST00000678312.1:n.1637T>C
ENST00000678316.1:c.*723T>C	ENSP00000504112.1:n.*723T>C
ENST00000678371.1:n.1750T>C
ENST00000678404.1:c.1300T>C	ENSP00000503944.1:p.Phe434Leu
ENST00000678419.1:c.1300T>C	ENSP00000504085.1:p.Phe434Leu
ENST00000678433.1:n.1656T>C
ENST00000678467.1:c.1300T>C	ENSP00000504072.1:p.Phe434Leu
ENST00000678569.1:c.*285T>C	ENSP00000504261.1:n.*285T>C
ENST00000678961.1:n.1655T>C
ENST00000679002.1:n.1479T>C
ENST00000679012.1:c.856T>C	ENSP00000504446.1:p.Phe286Leu
ENST00000679070.1:c.*719T>C	ENSP00000503759.1:n.*719T>C
ENST00000679130.1:c.1300T>C	ENSP00000504845.1:p.Phe434Leu
ENST00000679315.1:c.*1130T>C	ENSP00000503065.1:n.*1130T>C
ENST00000243583.10:c.1177T>C	ENSP00000243583.5:p.Phe393Leu
ENST00000324464.7:c.1300T>C	ENSP00000315118.3:p.Phe434Leu
ENST00000593724.1:n.1415T>C
NM_001142555.2:c.1177T>C	NP_001136027.1:p.Phe393Leu
NM_024876.3:c.1300T>C	NP_079152.3:p.Phe434Leu
XM_005259270.3:c.1462T>C	XP_005259327.2:p.Phe488Leu
XM_005259271.3:c.1300T>C	XP_005259328.1:p.Phe434Leu
XM_005259272.3:c.1300T>C	XP_005259329.1:p.Phe434Leu
XM_005259273.3:c.1300T>C	XP_005259330.1:p.Phe434Leu
XM_006723392.2:c.1300T>C	XP_006723455.1:p.Phe434Leu
XM_006723393.2:c.1300T>C	XP_006723456.1:p.Phe434Leu
XM_011527334.1:c.1300T>C	XP_011525636.1:p.Phe434Leu
XM_011527335.1:c.1159T>C	XP_011525637.1:p.Phe387Leu
XM_011527336.1:c.1330T>C	XP_011525638.1:p.Phe444Leu
XM_011527337.1:c.1300T>C	XP_011525639.1:p.Phe434Leu
XM_011527338.1:c.1300T>C	XP_011525640.1:p.Phe434Leu
NM_024876.4:c.1300T>C MANE Select	NP_079152.3:p.Phe434Leu
NM_001142555.3:c.1177T>C	NP_001136027.1:p.Phe393Leu