Canonical Allele Identifier: CA507686017

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41198168G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692263G>C , CM000681.2:g.40692263G>C	GRCh38
NC_000019.9:g.41198168G>C , CM000681.1:g.41198168G>C	GRCh37
NC_000019.8:g.45890008G>C	NCBI36
NG_027800.1:g.29623C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1407C>G MANE Select	ENSP00000315118.3:p.Leu469=
ENST00000593724.2:n.3230C>G
ENST00000594490.6:c.1329C>G	ENSP00000471310.2:p.Leu443=
ENST00000594720.6:c.1407C>G	ENSP00000470876.2:p.Leu469=
ENST00000596455.6:n.1699C>G
ENST00000601967.6:c.1407C>G	ENSP00000470916.2:p.Leu469=
ENST00000676555.1:c.*832C>G	ENSP00000503387.1:n.*832C>G
ENST00000676578.1:c.*1149C>G	ENSP00000504076.1:n.*1149C>G
ENST00000676960.1:n.1532C>G
ENST00000676962.1:n.1686C>G
ENST00000677018.1:c.1407C>G	ENSP00000503480.1:p.Leu469=
ENST00000677039.1:n.3610C>G
ENST00000677399.1:n.1849C>G
ENST00000677496.1:c.1080C>G	ENSP00000504773.1:p.Leu360=
ENST00000677517.1:c.1080C>G	ENSP00000503519.1:p.Leu360=
ENST00000677633.1:c.*830C>G	ENSP00000503645.1:n.*830C>G
ENST00000677800.1:c.*4511C>G	ENSP00000503794.1:n.*4511C>G
ENST00000678057.1:c.*971C>G	ENSP00000503762.1:n.*971C>G
ENST00000678119.1:n.1601C>G
ENST00000678166.1:n.1550C>G
ENST00000678312.1:n.1744C>G
ENST00000678316.1:c.*830C>G	ENSP00000504112.1:n.*830C>G
ENST00000678371.1:n.1857C>G
ENST00000678404.1:c.1407C>G	ENSP00000503944.1:p.Leu469=
ENST00000678419.1:c.1407C>G	ENSP00000504085.1:p.Leu469=
ENST00000678433.1:n.1763C>G
ENST00000678467.1:c.1407C>G	ENSP00000504072.1:p.Leu469=
ENST00000678569.1:c.*392C>G	ENSP00000504261.1:n.*392C>G
ENST00000678961.1:n.1762C>G
ENST00000679002.1:n.1586C>G
ENST00000679012.1:c.963C>G	ENSP00000504446.1:p.Leu321=
ENST00000679070.1:c.*826C>G	ENSP00000503759.1:n.*826C>G
ENST00000679130.1:c.1407C>G	ENSP00000504845.1:p.Leu469=
ENST00000679315.1:c.*1237C>G	ENSP00000503065.1:n.*1237C>G
ENST00000243583.10:c.1284C>G	ENSP00000243583.5:p.Leu428=
ENST00000324464.7:c.1407C>G	ENSP00000315118.3:p.Leu469=
ENST00000593724.1:n.1522C>G
NM_001142555.2:c.1284C>G	NP_001136027.1:p.Leu428=
NM_024876.3:c.1407C>G	NP_079152.3:p.Leu469=
XM_005259270.3:c.1569C>G	XP_005259327.2:p.Leu523=
XM_005259271.3:c.1407C>G	XP_005259328.1:p.Leu469=
XM_005259272.3:c.1407C>G	XP_005259329.1:p.Leu469=
XM_005259273.3:c.1407C>G	XP_005259330.1:p.Leu469=
XM_006723392.2:c.1407C>G	XP_006723455.1:p.Leu469=
XM_006723393.2:c.1407C>G	XP_006723456.1:p.Leu469=
XM_011527334.1:c.1407C>G	XP_011525636.1:p.Leu469=
XM_011527335.1:c.1266C>G	XP_011525637.1:p.Leu422=
XM_011527336.1:c.1437C>G	XP_011525638.1:p.Leu479=
XM_011527337.1:c.1407C>G	XP_011525639.1:p.Leu469=
XM_011527338.1:c.1407C>G	XP_011525640.1:p.Leu469=
NM_024876.4:c.1407C>G MANE Select	NP_079152.3:p.Leu469=
NM_001142555.3:c.1284C>G	NP_001136027.1:p.Leu428=