Canonical Allele Identifier: CA9450014

Gene: COQ8B

Linked Data

• dbSNP Id: rs752584589
• ExAC: 19:41198182 G / A
• gnomAD v2: 19-41198182-G-A
• gnomAD v3: 19-40692277-G-A
• gnomAD v4: 19-40692277-G-A
• MyVariant Identifiers: chr19:g.41198182G>A (hg19) ; chr19:g.40692277G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692277G>A , CM000681.2:g.40692277G>A	GRCh38
NC_000019.9:g.41198182G>A , CM000681.1:g.41198182G>A	GRCh37
NC_000019.8:g.45890022G>A	NCBI36
NG_027800.1:g.29609C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1393C>T MANE Select	ENSP00000315118.3:p.Arg465Cys
ENST00000593724.2:n.3216C>T
ENST00000594490.6:c.1315C>T	ENSP00000471310.2:p.Arg439Cys
ENST00000594720.6:c.1393C>T	ENSP00000470876.2:p.Arg465Cys
ENST00000596455.6:n.1685C>T
ENST00000601967.6:c.1393C>T	ENSP00000470916.2:p.Arg465Cys
ENST00000676555.1:c.*818C>T	ENSP00000503387.1:n.*818C>T
ENST00000676578.1:c.*1135C>T	ENSP00000504076.1:n.*1135C>T
ENST00000676960.1:n.1518C>T
ENST00000676962.1:n.1672C>T
ENST00000677018.1:c.1393C>T	ENSP00000503480.1:p.Arg465Cys
ENST00000677039.1:n.3596C>T
ENST00000677399.1:n.1835C>T
ENST00000677496.1:c.1066C>T	ENSP00000504773.1:p.Arg356Cys
ENST00000677517.1:c.1066C>T	ENSP00000503519.1:p.Arg356Cys
ENST00000677633.1:c.*816C>T	ENSP00000503645.1:n.*816C>T
ENST00000677800.1:c.*4497C>T	ENSP00000503794.1:n.*4497C>T
ENST00000678057.1:c.*957C>T	ENSP00000503762.1:n.*957C>T
ENST00000678119.1:n.1587C>T
ENST00000678166.1:n.1536C>T
ENST00000678312.1:n.1730C>T
ENST00000678316.1:c.*816C>T	ENSP00000504112.1:n.*816C>T
ENST00000678371.1:n.1843C>T
ENST00000678404.1:c.1393C>T	ENSP00000503944.1:p.Arg465Cys
ENST00000678419.1:c.1393C>T	ENSP00000504085.1:p.Arg465Cys
ENST00000678433.1:n.1749C>T
ENST00000678467.1:c.1393C>T	ENSP00000504072.1:p.Arg465Cys
ENST00000678569.1:c.*378C>T	ENSP00000504261.1:n.*378C>T
ENST00000678961.1:n.1748C>T
ENST00000679002.1:n.1572C>T
ENST00000679012.1:c.949C>T	ENSP00000504446.1:p.Arg317Cys
ENST00000679070.1:c.*812C>T	ENSP00000503759.1:n.*812C>T
ENST00000679130.1:c.1393C>T	ENSP00000504845.1:p.Arg465Cys
ENST00000679315.1:c.*1223C>T	ENSP00000503065.1:n.*1223C>T
ENST00000243583.10:c.1270C>T	ENSP00000243583.5:p.Arg424Cys
ENST00000324464.7:c.1393C>T	ENSP00000315118.3:p.Arg465Cys
ENST00000593724.1:n.1508C>T
NM_001142555.2:c.1270C>T	NP_001136027.1:p.Arg424Cys
NM_024876.3:c.1393C>T	NP_079152.3:p.Arg465Cys
XM_005259270.3:c.1555C>T	XP_005259327.2:p.Arg519Cys
XM_005259271.3:c.1393C>T	XP_005259328.1:p.Arg465Cys
XM_005259272.3:c.1393C>T	XP_005259329.1:p.Arg465Cys
XM_005259273.3:c.1393C>T	XP_005259330.1:p.Arg465Cys
XM_006723392.2:c.1393C>T	XP_006723455.1:p.Arg465Cys
XM_006723393.2:c.1393C>T	XP_006723456.1:p.Arg465Cys
XM_011527334.1:c.1393C>T	XP_011525636.1:p.Arg465Cys
XM_011527335.1:c.1252C>T	XP_011525637.1:p.Arg418Cys
XM_011527336.1:c.1423C>T	XP_011525638.1:p.Arg475Cys
XM_011527337.1:c.1393C>T	XP_011525639.1:p.Arg465Cys
XM_011527338.1:c.1393C>T	XP_011525640.1:p.Arg465Cys
NM_024876.4:c.1393C>T MANE Select	NP_079152.3:p.Arg465Cys
NM_001142555.3:c.1270C>T	NP_001136027.1:p.Arg424Cys