Canonical Allele Identifier: CA507686309

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41198213A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692308A>C , CM000681.2:g.40692308A>C	GRCh38
NC_000019.9:g.41198213A>C , CM000681.1:g.41198213A>C	GRCh37
NC_000019.8:g.45890053A>C	NCBI36
NG_027800.1:g.29578T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1362T>G MANE Select	ENSP00000315118.3:p.Pro454=
ENST00000593724.2:n.3185T>G
ENST00000594490.6:c.1284T>G	ENSP00000471310.2:p.Pro428=
ENST00000594720.6:c.1362T>G	ENSP00000470876.2:p.Pro454=
ENST00000596455.6:n.1654T>G
ENST00000601967.6:c.1362T>G	ENSP00000470916.2:p.Pro454=
ENST00000676555.1:c.*787T>G	ENSP00000503387.1:n.*787T>G
ENST00000676578.1:c.*1104T>G	ENSP00000504076.1:n.*1104T>G
ENST00000676960.1:n.1487T>G
ENST00000676962.1:n.1641T>G
ENST00000677018.1:c.1362T>G	ENSP00000503480.1:p.Pro454=
ENST00000677039.1:n.3565T>G
ENST00000677399.1:n.1804T>G
ENST00000677496.1:c.1035T>G	ENSP00000504773.1:p.Pro345=
ENST00000677517.1:c.1035T>G	ENSP00000503519.1:p.Pro345=
ENST00000677633.1:c.*785T>G	ENSP00000503645.1:n.*785T>G
ENST00000677800.1:c.*4466T>G	ENSP00000503794.1:n.*4466T>G
ENST00000678057.1:c.*926T>G	ENSP00000503762.1:n.*926T>G
ENST00000678119.1:n.1556T>G
ENST00000678166.1:n.1505T>G
ENST00000678312.1:n.1699T>G
ENST00000678316.1:c.*785T>G	ENSP00000504112.1:n.*785T>G
ENST00000678371.1:n.1812T>G
ENST00000678404.1:c.1362T>G	ENSP00000503944.1:p.Pro454=
ENST00000678419.1:c.1362T>G	ENSP00000504085.1:p.Pro454=
ENST00000678433.1:n.1718T>G
ENST00000678467.1:c.1362T>G	ENSP00000504072.1:p.Pro454=
ENST00000678569.1:c.*347T>G	ENSP00000504261.1:n.*347T>G
ENST00000678961.1:n.1717T>G
ENST00000679002.1:n.1541T>G
ENST00000679012.1:c.918T>G	ENSP00000504446.1:p.Pro306=
ENST00000679070.1:c.*781T>G	ENSP00000503759.1:n.*781T>G
ENST00000679130.1:c.1362T>G	ENSP00000504845.1:p.Pro454=
ENST00000679315.1:c.*1192T>G	ENSP00000503065.1:n.*1192T>G
ENST00000243583.10:c.1239T>G	ENSP00000243583.5:p.Pro413=
ENST00000324464.7:c.1362T>G	ENSP00000315118.3:p.Pro454=
ENST00000593724.1:n.1477T>G
NM_001142555.2:c.1239T>G	NP_001136027.1:p.Pro413=
NM_024876.3:c.1362T>G	NP_079152.3:p.Pro454=
XM_005259270.3:c.1524T>G	XP_005259327.2:p.Pro508=
XM_005259271.3:c.1362T>G	XP_005259328.1:p.Pro454=
XM_005259272.3:c.1362T>G	XP_005259329.1:p.Pro454=
XM_005259273.3:c.1362T>G	XP_005259330.1:p.Pro454=
XM_006723392.2:c.1362T>G	XP_006723455.1:p.Pro454=
XM_006723393.2:c.1362T>G	XP_006723456.1:p.Pro454=
XM_011527334.1:c.1362T>G	XP_011525636.1:p.Pro454=
XM_011527335.1:c.1221T>G	XP_011525637.1:p.Pro407=
XM_011527336.1:c.1392T>G	XP_011525638.1:p.Pro464=
XM_011527337.1:c.1362T>G	XP_011525639.1:p.Pro454=
XM_011527338.1:c.1362T>G	XP_011525640.1:p.Pro454=
NM_024876.4:c.1362T>G MANE Select	NP_079152.3:p.Pro454=
NM_001142555.3:c.1239T>G	NP_001136027.1:p.Pro413=