Canonical Allele Identifier: CA507686313

Gene: COQ8B

Linked Data

• gnomAD v4: 19-40692311-G-A
• MyVariant Identifiers: chr19:g.41198216G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692311G>A , CM000681.2:g.40692311G>A	GRCh38
NC_000019.9:g.41198216G>A , CM000681.1:g.41198216G>A	GRCh37
NC_000019.8:g.45890056G>A	NCBI36
NG_027800.1:g.29575C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1359C>T MANE Select	ENSP00000315118.3:p.Gly453=
ENST00000593724.2:n.3182C>T
ENST00000594490.6:c.1281C>T	ENSP00000471310.2:p.Gly427=
ENST00000594720.6:c.1359C>T	ENSP00000470876.2:p.Gly453=
ENST00000596455.6:n.1651C>T
ENST00000601967.6:c.1359C>T	ENSP00000470916.2:p.Gly453=
ENST00000676555.1:c.*784C>T	ENSP00000503387.1:n.*784C>T
ENST00000676578.1:c.*1101C>T	ENSP00000504076.1:n.*1101C>T
ENST00000676960.1:n.1484C>T
ENST00000676962.1:n.1638C>T
ENST00000677018.1:c.1359C>T	ENSP00000503480.1:p.Gly453=
ENST00000677039.1:n.3562C>T
ENST00000677399.1:n.1801C>T
ENST00000677496.1:c.1032C>T	ENSP00000504773.1:p.Gly344=
ENST00000677517.1:c.1032C>T	ENSP00000503519.1:p.Gly344=
ENST00000677633.1:c.*782C>T	ENSP00000503645.1:n.*782C>T
ENST00000677800.1:c.*4463C>T	ENSP00000503794.1:n.*4463C>T
ENST00000678057.1:c.*923C>T	ENSP00000503762.1:n.*923C>T
ENST00000678119.1:n.1553C>T
ENST00000678166.1:n.1502C>T
ENST00000678312.1:n.1696C>T
ENST00000678316.1:c.*782C>T	ENSP00000504112.1:n.*782C>T
ENST00000678371.1:n.1809C>T
ENST00000678404.1:c.1359C>T	ENSP00000503944.1:p.Gly453=
ENST00000678419.1:c.1359C>T	ENSP00000504085.1:p.Gly453=
ENST00000678433.1:n.1715C>T
ENST00000678467.1:c.1359C>T	ENSP00000504072.1:p.Gly453=
ENST00000678569.1:c.*344C>T	ENSP00000504261.1:n.*344C>T
ENST00000678961.1:n.1714C>T
ENST00000679002.1:n.1538C>T
ENST00000679012.1:c.915C>T	ENSP00000504446.1:p.Gly305=
ENST00000679070.1:c.*778C>T	ENSP00000503759.1:n.*778C>T
ENST00000679130.1:c.1359C>T	ENSP00000504845.1:p.Gly453=
ENST00000679315.1:c.*1189C>T	ENSP00000503065.1:n.*1189C>T
ENST00000243583.10:c.1236C>T	ENSP00000243583.5:p.Gly412=
ENST00000324464.7:c.1359C>T	ENSP00000315118.3:p.Gly453=
ENST00000593724.1:n.1474C>T
NM_001142555.2:c.1236C>T	NP_001136027.1:p.Gly412=
NM_024876.3:c.1359C>T	NP_079152.3:p.Gly453=
XM_005259270.3:c.1521C>T	XP_005259327.2:p.Gly507=
XM_005259271.3:c.1359C>T	XP_005259328.1:p.Gly453=
XM_005259272.3:c.1359C>T	XP_005259329.1:p.Gly453=
XM_005259273.3:c.1359C>T	XP_005259330.1:p.Gly453=
XM_006723392.2:c.1359C>T	XP_006723455.1:p.Gly453=
XM_006723393.2:c.1359C>T	XP_006723456.1:p.Gly453=
XM_011527334.1:c.1359C>T	XP_011525636.1:p.Gly453=
XM_011527335.1:c.1218C>T	XP_011525637.1:p.Gly406=
XM_011527336.1:c.1389C>T	XP_011525638.1:p.Gly463=
XM_011527337.1:c.1359C>T	XP_011525639.1:p.Gly453=
XM_011527338.1:c.1359C>T	XP_011525640.1:p.Gly453=
NM_024876.4:c.1359C>T MANE Select	NP_079152.3:p.Gly453=
NM_001142555.3:c.1236C>T	NP_001136027.1:p.Gly412=