Canonical Allele Identifier: CA405960740

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41206245G>T (hg19) ; chr19:g.40700340G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40700340G>T , CM000681.2:g.40700340G>T	GRCh38
NC_000019.9:g.41206245G>T , CM000681.1:g.41206245G>T	GRCh37
NC_000019.8:g.45898085G>T	NCBI36
NG_027800.1:g.21546C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1005C>A MANE Select	ENSP00000315118.3:p.Cys335Ter
ENST00000593724.2:n.2828C>A
ENST00000594490.6:c.927C>A	ENSP00000471310.2:p.Cys309Ter
ENST00000594720.6:c.1005C>A	ENSP00000470876.2:p.Cys335Ter
ENST00000596455.6:n.1297C>A
ENST00000601967.6:c.1005C>A	ENSP00000470916.2:p.Cys335Ter
ENST00000676555.1:c.1005C>A	ENSP00000503387.1:p.Cys335Ter
ENST00000676578.1:c.*747C>A	ENSP00000504076.1:n.*747C>A
ENST00000676960.1:n.1130C>A
ENST00000676962.1:n.1284C>A
ENST00000677018.1:c.1005C>A	ENSP00000503480.1:p.Cys335Ter
ENST00000677039.1:n.3208C>A
ENST00000677399.1:n.1447C>A
ENST00000677496.1:c.678C>A	ENSP00000504773.1:p.Cys226Ter
ENST00000677517.1:c.678C>A	ENSP00000503519.1:p.Cys226Ter
ENST00000677633.1:c.*428C>A	ENSP00000503645.1:n.*428C>A
ENST00000677800.1:c.*4109C>A	ENSP00000503794.1:n.*4109C>A
ENST00000678057.1:c.*569C>A	ENSP00000503762.1:n.*569C>A
ENST00000678119.1:n.1199C>A
ENST00000678166.1:n.1148C>A
ENST00000678312.1:n.1342C>A
ENST00000678316.1:c.*428C>A	ENSP00000504112.1:n.*428C>A
ENST00000678371.1:n.1455C>A
ENST00000678404.1:c.1005C>A	ENSP00000503944.1:p.Cys335Ter
ENST00000678419.1:c.1005C>A	ENSP00000504085.1:p.Cys335Ter
ENST00000678433.1:n.1361C>A
ENST00000678467.1:c.1005C>A	ENSP00000504072.1:p.Cys335Ter
ENST00000678569.1:c.1001C>A	ENSP00000504261.1:p.Ala334Asp
ENST00000678961.1:n.1360C>A
ENST00000679002.1:n.1184C>A
ENST00000679012.1:c.561C>A	ENSP00000504446.1:p.Cys187Ter
ENST00000679070.1:c.*424C>A	ENSP00000503759.1:n.*424C>A
ENST00000679130.1:c.1005C>A	ENSP00000504845.1:p.Cys335Ter
ENST00000679315.1:c.*835C>A	ENSP00000503065.1:n.*835C>A
ENST00000243583.10:c.882C>A	ENSP00000243583.5:p.Cys294Ter
ENST00000324464.7:c.1005C>A	ENSP00000315118.3:p.Cys335Ter
ENST00000593724.1:n.1120C>A
NM_001142555.2:c.882C>A	NP_001136027.1:p.Cys294Ter
NM_024876.3:c.1005C>A	NP_079152.3:p.Cys335Ter
XM_005259270.3:c.1167C>A	XP_005259327.2:p.Cys389Ter
XM_005259271.3:c.1005C>A	XP_005259328.1:p.Cys335Ter
XM_005259272.3:c.1005C>A	XP_005259329.1:p.Cys335Ter
XM_005259273.3:c.1005C>A	XP_005259330.1:p.Cys335Ter
XM_006723392.2:c.1005C>A	XP_006723455.1:p.Cys335Ter
XM_006723393.2:c.1005C>A	XP_006723456.1:p.Cys335Ter
XM_011527334.1:c.1005C>A	XP_011525636.1:p.Cys335Ter
XM_011527335.1:c.864C>A	XP_011525637.1:p.Cys288Ter
XM_011527336.1:c.1035C>A	XP_011525638.1:p.Cys345Ter
XM_011527337.1:c.1005C>A	XP_011525639.1:p.Cys335Ter
XM_011527338.1:c.1005C>A	XP_011525640.1:p.Cys335Ter
NM_024876.4:c.1005C>A MANE Select	NP_079152.3:p.Cys335Ter
NM_001142555.3:c.882C>A	NP_001136027.1:p.Cys294Ter