Canonical Allele Identifier: CA308440739

Gene: COQ8B

Linked Data

• dbSNP Id: rs375857990
• gnomAD v3: 19-40700389-G-A
• gnomAD v4: 19-40700389-G-A
• MyVariant Identifiers: chr19:g.41206294G>A (hg19) ; chr19:g.40700389G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40700389G>A , CM000681.2:g.40700389G>A	GRCh38
NC_000019.9:g.41206294G>A , CM000681.1:g.41206294G>A	GRCh37
NC_000019.8:g.45898134G>A	NCBI36
NG_027800.1:g.21497C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.956C>T MANE Select	ENSP00000315118.3:p.Thr319Ile
ENST00000593724.2:n.2779C>T
ENST00000594490.6:c.878C>T	ENSP00000471310.2:p.Thr293Ile
ENST00000594720.6:c.956C>T	ENSP00000470876.2:p.Thr319Ile
ENST00000596455.6:n.1248C>T
ENST00000601967.6:c.956C>T	ENSP00000470916.2:p.Thr319Ile
ENST00000676555.1:c.956C>T	ENSP00000503387.1:p.Thr319Ile
ENST00000676578.1:c.*698C>T	ENSP00000504076.1:n.*698C>T
ENST00000676960.1:n.1081C>T
ENST00000676962.1:n.1235C>T
ENST00000677018.1:c.956C>T	ENSP00000503480.1:p.Thr319Ile
ENST00000677039.1:n.3159C>T
ENST00000677399.1:n.1398C>T
ENST00000677496.1:c.629C>T	ENSP00000504773.1:p.Thr210Ile
ENST00000677517.1:c.629C>T	ENSP00000503519.1:p.Thr210Ile
ENST00000677633.1:c.*379C>T	ENSP00000503645.1:n.*379C>T
ENST00000677800.1:c.*4060C>T	ENSP00000503794.1:n.*4060C>T
ENST00000678057.1:c.*520C>T	ENSP00000503762.1:n.*520C>T
ENST00000678119.1:n.1150C>T
ENST00000678166.1:n.1099C>T
ENST00000678312.1:n.1293C>T
ENST00000678316.1:c.*379C>T	ENSP00000504112.1:n.*379C>T
ENST00000678371.1:n.1406C>T
ENST00000678404.1:c.956C>T	ENSP00000503944.1:p.Thr319Ile
ENST00000678419.1:c.956C>T	ENSP00000504085.1:p.Thr319Ile
ENST00000678433.1:n.1312C>T
ENST00000678467.1:c.956C>T	ENSP00000504072.1:p.Thr319Ile
ENST00000678569.1:c.952C>T	ENSP00000504261.1:p.His318Tyr
ENST00000678961.1:n.1311C>T
ENST00000679002.1:n.1135C>T
ENST00000679012.1:c.512C>T	ENSP00000504446.1:p.Thr171Ile
ENST00000679070.1:c.*375C>T	ENSP00000503759.1:n.*375C>T
ENST00000679130.1:c.956C>T	ENSP00000504845.1:p.Thr319Ile
ENST00000679315.1:c.*786C>T	ENSP00000503065.1:n.*786C>T
ENST00000243583.10:c.833C>T	ENSP00000243583.5:p.Thr278Ile
ENST00000324464.7:c.956C>T	ENSP00000315118.3:p.Thr319Ile
ENST00000593724.1:n.1071C>T
NM_001142555.2:c.833C>T	NP_001136027.1:p.Thr278Ile
NM_024876.3:c.956C>T	NP_079152.3:p.Thr319Ile
XM_005259270.3:c.1118C>T	XP_005259327.2:p.Thr373Ile
XM_005259271.3:c.956C>T	XP_005259328.1:p.Thr319Ile
XM_005259272.3:c.956C>T	XP_005259329.1:p.Thr319Ile
XM_005259273.3:c.956C>T	XP_005259330.1:p.Thr319Ile
XM_006723392.2:c.956C>T	XP_006723455.1:p.Thr319Ile
XM_006723393.2:c.956C>T	XP_006723456.1:p.Thr319Ile
XM_011527334.1:c.956C>T	XP_011525636.1:p.Thr319Ile
XM_011527335.1:c.815C>T	XP_011525637.1:p.Thr272Ile
XM_011527336.1:c.986C>T	XP_011525638.1:p.Thr329Ile
XM_011527337.1:c.956C>T	XP_011525639.1:p.Thr319Ile
XM_011527338.1:c.956C>T	XP_011525640.1:p.Thr319Ile
NM_024876.4:c.956C>T MANE Select	NP_079152.3:p.Thr319Ile
NM_001142555.3:c.833C>T	NP_001136027.1:p.Thr278Ile