Canonical Allele Identifier: CA405957447

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41198041A>T (hg19) ; chr19:g.40692136A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692136A>T , CM000681.2:g.40692136A>T	GRCh38
NC_000019.9:g.41198041A>T , CM000681.1:g.41198041A>T	GRCh37
NC_000019.8:g.45889881A>T	NCBI36
NG_027800.1:g.29750T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324464.8:c.1534T>A MANE Select	ENSP00000315118.3:p.Phe512Ile
ENST00000593724.2:n.3357T>A
ENST00000594490.6:c.1456T>A	ENSP00000471310.2:p.Phe486Ile
ENST00000594720.6:c.1534T>A	ENSP00000470876.2:p.Phe512Ile
ENST00000596455.6:n.1826T>A
ENST00000601967.6:c.1534T>A	ENSP00000470916.2:p.Phe512Ile
ENST00000676555.1:c.*959T>A	ENSP00000503387.1:n.*959T>A
ENST00000676578.1:c.*1276T>A	ENSP00000504076.1:n.*1276T>A
ENST00000676960.1:n.1659T>A
ENST00000676962.1:n.1813T>A
ENST00000677018.1:c.1534T>A	ENSP00000503480.1:p.Phe512Ile
ENST00000677039.1:n.3737T>A
ENST00000677399.1:n.1976T>A
ENST00000677496.1:c.1207T>A	ENSP00000504773.1:p.Phe403Ile
ENST00000677517.1:c.1207T>A	ENSP00000503519.1:p.Phe403Ile
ENST00000677633.1:c.*957T>A	ENSP00000503645.1:n.*957T>A
ENST00000677800.1:c.*4638T>A	ENSP00000503794.1:n.*4638T>A
ENST00000678057.1:c.*1098T>A	ENSP00000503762.1:n.*1098T>A
ENST00000678119.1:n.1728T>A
ENST00000678166.1:n.1677T>A
ENST00000678312.1:n.1871T>A
ENST00000678316.1:c.*957T>A	ENSP00000504112.1:n.*957T>A
ENST00000678371.1:n.1984T>A
ENST00000678404.1:c.1534T>A	ENSP00000503944.1:p.Phe512Ile
ENST00000678419.1:c.1534T>A	ENSP00000504085.1:p.Phe512Ile
ENST00000678433.1:n.1890T>A
ENST00000678467.1:c.1534T>A	ENSP00000504072.1:p.Phe512Ile
ENST00000678569.1:c.*519T>A	ENSP00000504261.1:n.*519T>A
ENST00000678961.1:n.1889T>A
ENST00000679002.1:n.1713T>A
ENST00000679012.1:c.1090T>A	ENSP00000504446.1:p.Phe364Ile
ENST00000679070.1:c.*953T>A	ENSP00000503759.1:n.*953T>A
ENST00000679130.1:c.1534T>A	ENSP00000504845.1:p.Phe512Ile
ENST00000679315.1:c.*1364T>A	ENSP00000503065.1:n.*1364T>A
ENST00000243583.10:c.1411T>A	ENSP00000243583.5:p.Phe471Ile
ENST00000324464.7:c.1534T>A	ENSP00000315118.3:p.Phe512Ile
ENST00000593724.1:n.1649T>A
NM_001142555.2:c.1411T>A	NP_001136027.1:p.Phe471Ile
NM_024876.3:c.1534T>A	NP_079152.3:p.Phe512Ile
XM_005259270.3:c.1696T>A	XP_005259327.2:p.Phe566Ile
XM_005259271.3:c.1534T>A	XP_005259328.1:p.Phe512Ile
XM_005259272.3:c.1534T>A	XP_005259329.1:p.Phe512Ile
XM_005259273.3:c.1534T>A	XP_005259330.1:p.Phe512Ile
XM_006723392.2:c.1534T>A	XP_006723455.1:p.Phe512Ile
XM_006723393.2:c.1534T>A	XP_006723456.1:p.Phe512Ile
XM_011527334.1:c.1534T>A	XP_011525636.1:p.Phe512Ile
XM_011527335.1:c.1393T>A	XP_011525637.1:p.Phe465Ile
XM_011527336.1:c.1564T>A	XP_011525638.1:p.Phe522Ile
XM_011527337.1:c.1534T>A	XP_011525639.1:p.Phe512Ile
XM_011527338.1:c.1534T>A	XP_011525640.1:p.Phe512Ile
NM_024876.4:c.1534T>A MANE Select	NP_079152.3:p.Phe512Ile
NM_001142555.3:c.1411T>A	NP_001136027.1:p.Phe471Ile