Canonical Allele Identifier: CA507685779

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41198039G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692134G>A , CM000681.2:g.40692134G>A	GRCh38
NC_000019.9:g.41198039G>A , CM000681.1:g.41198039G>A	GRCh37
NC_000019.8:g.45889879G>A	NCBI36
NG_027800.1:g.29752C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000324464.8:c.1536C>T MANE Select	ENSP00000315118.3:p.Phe512=
ENST00000593724.2:n.3359C>T
ENST00000594490.6:c.1458C>T	ENSP00000471310.2:p.Phe486=
ENST00000594720.6:c.1536C>T	ENSP00000470876.2:p.Phe512=
ENST00000596455.6:n.1828C>T
ENST00000601967.6:c.1536C>T	ENSP00000470916.2:p.Phe512=
ENST00000676555.1:c.*961C>T	ENSP00000503387.1:n.*961C>T
ENST00000676578.1:c.*1278C>T	ENSP00000504076.1:n.*1278C>T
ENST00000676960.1:n.1661C>T
ENST00000676962.1:n.1815C>T
ENST00000677018.1:c.1536C>T	ENSP00000503480.1:p.Phe512=
ENST00000677039.1:n.3739C>T
ENST00000677399.1:n.1978C>T
ENST00000677496.1:c.1209C>T	ENSP00000504773.1:p.Phe403=
ENST00000677517.1:c.1209C>T	ENSP00000503519.1:p.Phe403=
ENST00000677633.1:c.*959C>T	ENSP00000503645.1:n.*959C>T
ENST00000677800.1:c.*4640C>T	ENSP00000503794.1:n.*4640C>T
ENST00000678057.1:c.*1100C>T	ENSP00000503762.1:n.*1100C>T
ENST00000678119.1:n.1730C>T
ENST00000678166.1:n.1679C>T
ENST00000678312.1:n.1873C>T
ENST00000678316.1:c.*959C>T	ENSP00000504112.1:n.*959C>T
ENST00000678371.1:n.1986C>T
ENST00000678404.1:c.1536C>T	ENSP00000503944.1:p.Phe512=
ENST00000678419.1:c.1536C>T	ENSP00000504085.1:p.Phe512=
ENST00000678433.1:n.1892C>T
ENST00000678467.1:c.1536C>T	ENSP00000504072.1:p.Phe512=
ENST00000678569.1:c.*521C>T	ENSP00000504261.1:n.*521C>T
ENST00000678961.1:n.1891C>T
ENST00000679002.1:n.1715C>T
ENST00000679012.1:c.1092C>T	ENSP00000504446.1:p.Phe364=
ENST00000679070.1:c.*955C>T	ENSP00000503759.1:n.*955C>T
ENST00000679130.1:c.1536C>T	ENSP00000504845.1:p.Phe512=
ENST00000679315.1:c.*1366C>T	ENSP00000503065.1:n.*1366C>T
ENST00000243583.10:c.1413C>T	ENSP00000243583.5:p.Phe471=
ENST00000324464.7:c.1536C>T	ENSP00000315118.3:p.Phe512=
ENST00000593724.1:n.1651C>T
NM_001142555.2:c.1413C>T	NP_001136027.1:p.Phe471=
NM_024876.3:c.1536C>T	NP_079152.3:p.Phe512=
XM_005259270.3:c.1698C>T	XP_005259327.2:p.Phe566=
XM_005259271.3:c.1536C>T	XP_005259328.1:p.Phe512=
XM_005259272.3:c.1536C>T	XP_005259329.1:p.Phe512=
XM_005259273.3:c.1536C>T	XP_005259330.1:p.Phe512=
XM_006723392.2:c.1536C>T	XP_006723455.1:p.Phe512=
XM_006723393.2:c.1536C>T	XP_006723456.1:p.Phe512=
XM_011527334.1:c.1536C>T	XP_011525636.1:p.Phe512=
XM_011527335.1:c.1395C>T	XP_011525637.1:p.Phe465=
XM_011527336.1:c.1566C>T	XP_011525638.1:p.Phe522=
XM_011527337.1:c.1536C>T	XP_011525639.1:p.Phe512=
XM_011527338.1:c.1536C>T	XP_011525640.1:p.Phe512=
NM_024876.4:c.1536C>T MANE Select	NP_079152.3:p.Phe512=
NM_001142555.3:c.1413C>T	NP_001136027.1:p.Phe471=