Canonical Allele Identifier: CA405957695

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41198160A>T (hg19) ; chr19:g.40692255A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692255A>T , CM000681.2:g.40692255A>T	GRCh38
NC_000019.9:g.41198160A>T , CM000681.1:g.41198160A>T	GRCh37
NC_000019.8:g.45890000A>T	NCBI36
NG_027800.1:g.29631T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1415T>A MANE Select	ENSP00000315118.3:p.Val472Glu
ENST00000593724.2:n.3238T>A
ENST00000594490.6:c.1337T>A	ENSP00000471310.2:p.Val446Glu
ENST00000594720.6:c.1415T>A	ENSP00000470876.2:p.Val472Glu
ENST00000596455.6:n.1707T>A
ENST00000601967.6:c.1415T>A	ENSP00000470916.2:p.Val472Glu
ENST00000676555.1:c.*840T>A	ENSP00000503387.1:n.*840T>A
ENST00000676578.1:c.*1157T>A	ENSP00000504076.1:n.*1157T>A
ENST00000676960.1:n.1540T>A
ENST00000676962.1:n.1694T>A
ENST00000677018.1:c.1415T>A	ENSP00000503480.1:p.Val472Glu
ENST00000677039.1:n.3618T>A
ENST00000677399.1:n.1857T>A
ENST00000677496.1:c.1088T>A	ENSP00000504773.1:p.Val363Glu
ENST00000677517.1:c.1088T>A	ENSP00000503519.1:p.Val363Glu
ENST00000677633.1:c.*838T>A	ENSP00000503645.1:n.*838T>A
ENST00000677800.1:c.*4519T>A	ENSP00000503794.1:n.*4519T>A
ENST00000678057.1:c.*979T>A	ENSP00000503762.1:n.*979T>A
ENST00000678119.1:n.1609T>A
ENST00000678166.1:n.1558T>A
ENST00000678312.1:n.1752T>A
ENST00000678316.1:c.*838T>A	ENSP00000504112.1:n.*838T>A
ENST00000678371.1:n.1865T>A
ENST00000678404.1:c.1415T>A	ENSP00000503944.1:p.Val472Glu
ENST00000678419.1:c.1415T>A	ENSP00000504085.1:p.Val472Glu
ENST00000678433.1:n.1771T>A
ENST00000678467.1:c.1415T>A	ENSP00000504072.1:p.Val472Glu
ENST00000678569.1:c.*400T>A	ENSP00000504261.1:n.*400T>A
ENST00000678961.1:n.1770T>A
ENST00000679002.1:n.1594T>A
ENST00000679012.1:c.971T>A	ENSP00000504446.1:p.Val324Glu
ENST00000679070.1:c.*834T>A	ENSP00000503759.1:n.*834T>A
ENST00000679130.1:c.1415T>A	ENSP00000504845.1:p.Val472Glu
ENST00000679315.1:c.*1245T>A	ENSP00000503065.1:n.*1245T>A
ENST00000243583.10:c.1292T>A	ENSP00000243583.5:p.Val431Glu
ENST00000324464.7:c.1415T>A	ENSP00000315118.3:p.Val472Glu
ENST00000593724.1:n.1530T>A
NM_001142555.2:c.1292T>A	NP_001136027.1:p.Val431Glu
NM_024876.3:c.1415T>A	NP_079152.3:p.Val472Glu
XM_005259270.3:c.1577T>A	XP_005259327.2:p.Val526Glu
XM_005259271.3:c.1415T>A	XP_005259328.1:p.Val472Glu
XM_005259272.3:c.1415T>A	XP_005259329.1:p.Val472Glu
XM_005259273.3:c.1415T>A	XP_005259330.1:p.Val472Glu
XM_006723392.2:c.1415T>A	XP_006723455.1:p.Val472Glu
XM_006723393.2:c.1415T>A	XP_006723456.1:p.Val472Glu
XM_011527334.1:c.1415T>A	XP_011525636.1:p.Val472Glu
XM_011527335.1:c.1274T>A	XP_011525637.1:p.Val425Glu
XM_011527336.1:c.1445T>A	XP_011525638.1:p.Val482Glu
XM_011527337.1:c.1415T>A	XP_011525639.1:p.Val472Glu
XM_011527338.1:c.1415T>A	XP_011525640.1:p.Val472Glu
NM_024876.4:c.1415T>A MANE Select	NP_079152.3:p.Val472Glu
NM_001142555.3:c.1292T>A	NP_001136027.1:p.Val431Glu