Canonical Allele Identifier: CA405958077

Gene: COQ8B

Linked Data

• dbSNP Id: rs1171866679
• gnomAD v2: 19-41198256-T-A
• gnomAD v4: 19-40692351-T-A
• MyVariant Identifiers: chr19:g.41198256T>A (hg19) ; chr19:g.40692351T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692351T>A , CM000681.2:g.40692351T>A	GRCh38
NC_000019.9:g.41198256T>A , CM000681.1:g.41198256T>A	GRCh37
NC_000019.8:g.45890096T>A	NCBI36
NG_027800.1:g.29535A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1319A>T MANE Select	ENSP00000315118.3:p.Glu440Val
ENST00000593724.2:n.3142A>T
ENST00000594490.6:c.1241A>T	ENSP00000471310.2:p.Glu414Val
ENST00000594720.6:c.1319A>T	ENSP00000470876.2:p.Glu440Val
ENST00000596455.6:n.1611A>T
ENST00000601967.6:c.1319A>T	ENSP00000470916.2:p.Glu440Val
ENST00000676555.1:c.*744A>T	ENSP00000503387.1:n.*744A>T
ENST00000676578.1:c.*1061A>T	ENSP00000504076.1:n.*1061A>T
ENST00000676960.1:n.1444A>T
ENST00000676962.1:n.1598A>T
ENST00000677018.1:c.1319A>T	ENSP00000503480.1:p.Glu440Val
ENST00000677039.1:n.3522A>T
ENST00000677399.1:n.1761A>T
ENST00000677496.1:c.992A>T	ENSP00000504773.1:p.Glu331Val
ENST00000677517.1:c.992A>T	ENSP00000503519.1:p.Glu331Val
ENST00000677633.1:c.*742A>T	ENSP00000503645.1:n.*742A>T
ENST00000677800.1:c.*4423A>T	ENSP00000503794.1:n.*4423A>T
ENST00000678057.1:c.*883A>T	ENSP00000503762.1:n.*883A>T
ENST00000678119.1:n.1513A>T
ENST00000678166.1:n.1462A>T
ENST00000678312.1:n.1656A>T
ENST00000678316.1:c.*742A>T	ENSP00000504112.1:n.*742A>T
ENST00000678371.1:n.1769A>T
ENST00000678404.1:c.1319A>T	ENSP00000503944.1:p.Glu440Val
ENST00000678419.1:c.1319A>T	ENSP00000504085.1:p.Glu440Val
ENST00000678433.1:n.1675A>T
ENST00000678467.1:c.1319A>T	ENSP00000504072.1:p.Glu440Val
ENST00000678569.1:c.*304A>T	ENSP00000504261.1:n.*304A>T
ENST00000678961.1:n.1674A>T
ENST00000679002.1:n.1498A>T
ENST00000679012.1:c.875A>T	ENSP00000504446.1:p.Glu292Val
ENST00000679070.1:c.*738A>T	ENSP00000503759.1:n.*738A>T
ENST00000679130.1:c.1319A>T	ENSP00000504845.1:p.Glu440Val
ENST00000679315.1:c.*1149A>T	ENSP00000503065.1:n.*1149A>T
ENST00000243583.10:c.1196A>T	ENSP00000243583.5:p.Glu399Val
ENST00000324464.7:c.1319A>T	ENSP00000315118.3:p.Glu440Val
ENST00000593724.1:n.1434A>T
NM_001142555.2:c.1196A>T	NP_001136027.1:p.Glu399Val
NM_024876.3:c.1319A>T	NP_079152.3:p.Glu440Val
XM_005259270.3:c.1481A>T	XP_005259327.2:p.Glu494Val
XM_005259271.3:c.1319A>T	XP_005259328.1:p.Glu440Val
XM_005259272.3:c.1319A>T	XP_005259329.1:p.Glu440Val
XM_005259273.3:c.1319A>T	XP_005259330.1:p.Glu440Val
XM_006723392.2:c.1319A>T	XP_006723455.1:p.Glu440Val
XM_006723393.2:c.1319A>T	XP_006723456.1:p.Glu440Val
XM_011527334.1:c.1319A>T	XP_011525636.1:p.Glu440Val
XM_011527335.1:c.1178A>T	XP_011525637.1:p.Glu393Val
XM_011527336.1:c.1349A>T	XP_011525638.1:p.Glu450Val
XM_011527337.1:c.1319A>T	XP_011525639.1:p.Glu440Val
XM_011527338.1:c.1319A>T	XP_011525640.1:p.Glu440Val
NM_024876.4:c.1319A>T MANE Select	NP_079152.3:p.Glu440Val
NM_001142555.3:c.1196A>T	NP_001136027.1:p.Glu399Val