Canonical Allele Identifier: CA507685707

Gene: COQ8B

Linked Data

• gnomAD v4: 19-40692071-G-T
• MyVariant Identifiers: chr19:g.41197976G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692071G>T , CM000681.2:g.40692071G>T	GRCh38
NC_000019.9:g.41197976G>T , CM000681.1:g.41197976G>T	GRCh37
NC_000019.8:g.45889816G>T	NCBI36
NG_027800.1:g.29815C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1599C>A MANE Select	ENSP00000315118.3:p.Leu533=
ENST00000593724.2:n.3422C>A
ENST00000594490.6:c.1521C>A	ENSP00000471310.2:p.Leu507=
ENST00000594720.6:c.1599C>A	ENSP00000470876.2:p.Leu533=
ENST00000596455.6:n.1891C>A
ENST00000601967.6:c.1599C>A	ENSP00000470916.2:p.Leu533=
ENST00000676555.1:c.*1024C>A	ENSP00000503387.1:n.*1024C>A
ENST00000676578.1:c.*1341C>A	ENSP00000504076.1:n.*1341C>A
ENST00000676960.1:n.1724C>A
ENST00000676962.1:n.1878C>A
ENST00000677018.1:c.1599C>A	ENSP00000503480.1:p.Leu533=
ENST00000677039.1:n.3802C>A
ENST00000677399.1:n.2041C>A
ENST00000677496.1:c.1272C>A	ENSP00000504773.1:p.Leu424=
ENST00000677517.1:c.1272C>A	ENSP00000503519.1:p.Leu424=
ENST00000677633.1:c.*1022C>A	ENSP00000503645.1:n.*1022C>A
ENST00000677800.1:c.*4703C>A	ENSP00000503794.1:n.*4703C>A
ENST00000678057.1:c.*1163C>A	ENSP00000503762.1:n.*1163C>A
ENST00000678119.1:n.1793C>A
ENST00000678166.1:n.1742C>A
ENST00000678312.1:n.1936C>A
ENST00000678316.1:c.*1022C>A	ENSP00000504112.1:n.*1022C>A
ENST00000678371.1:n.2049C>A
ENST00000678404.1:c.1599C>A	ENSP00000503944.1:p.Leu533=
ENST00000678419.1:c.1599C>A	ENSP00000504085.1:p.Leu533=
ENST00000678433.1:n.1955C>A
ENST00000678467.1:c.1599C>A	ENSP00000504072.1:p.Leu533=
ENST00000678569.1:c.*584C>A	ENSP00000504261.1:n.*584C>A
ENST00000678961.1:n.1954C>A
ENST00000679002.1:n.1778C>A
ENST00000679012.1:c.1155C>A	ENSP00000504446.1:p.Leu385=
ENST00000679070.1:c.*1018C>A	ENSP00000503759.1:n.*1018C>A
ENST00000679130.1:c.1599C>A	ENSP00000504845.1:p.Leu533=
ENST00000679315.1:c.*1429C>A	ENSP00000503065.1:n.*1429C>A
ENST00000243583.10:c.1476C>A	ENSP00000243583.5:p.Leu492=
ENST00000324464.7:c.1599C>A	ENSP00000315118.3:p.Leu533=
ENST00000593724.1:n.1714C>A
NM_001142555.2:c.1476C>A	NP_001136027.1:p.Leu492=
NM_024876.3:c.1599C>A	NP_079152.3:p.Leu533=
XM_005259270.3:c.1761C>A	XP_005259327.2:p.Leu587=
XM_005259271.3:c.1599C>A	XP_005259328.1:p.Leu533=
XM_005259272.3:c.1599C>A	XP_005259329.1:p.Leu533=
XM_005259273.3:c.1599C>A	XP_005259330.1:p.Leu533=
XM_006723392.2:c.1599C>A	XP_006723455.1:p.Leu533=
XM_006723393.2:c.1599C>A	XP_006723456.1:p.Leu533=
XM_011527334.1:c.1599C>A	XP_011525636.1:p.Leu533=
XM_011527335.1:c.1458C>A	XP_011525637.1:p.Leu486=
XM_011527336.1:c.1629C>A	XP_011525638.1:p.Leu543=
XM_011527337.1:c.1599C>A	XP_011525639.1:p.Leu533=
XM_011527338.1:c.1599C>A	XP_011525640.1:p.Leu533=
NM_024876.4:c.1599C>A MANE Select	NP_079152.3:p.Leu533=
NM_001142555.3:c.1476C>A	NP_001136027.1:p.Leu492=