Canonical Allele Identifier: CA405963852

Gene: COQ8B

Linked Data

• ClinVar Variation Id: 1706166
• ClinVar RCV Id: RCV002284696
• MyVariant Identifiers: chr19:g.41209636A>T (hg19) ; chr19:g.40703731A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40703731A>T , CM000681.2:g.40703731A>T	GRCh38
NC_000019.9:g.41209636A>T , CM000681.1:g.41209636A>T	GRCh37
NC_000019.8:g.45901476A>T	NCBI36
NG_027800.1:g.18155T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.701T>A MANE Select	ENSP00000315118.3:p.Val234Glu
ENST00000593724.2:n.393-109T>A
ENST00000594490.6:c.623T>A	ENSP00000471310.2:p.Val208Glu
ENST00000594720.6:c.701T>A	ENSP00000470876.2:p.Val234Glu
ENST00000596455.6:n.993T>A
ENST00000601967.6:c.701T>A	ENSP00000470916.2:p.Val234Glu
ENST00000676555.1:c.701T>A	ENSP00000503387.1:p.Val234Glu
ENST00000676578.1:c.*443T>A	ENSP00000504076.1:n.*443T>A
ENST00000676960.1:n.826T>A
ENST00000676962.1:n.980T>A
ENST00000677018.1:c.701T>A	ENSP00000503480.1:p.Val234Glu
ENST00000677039.1:n.756T>A
ENST00000677399.1:n.1143T>A
ENST00000677496.1:c.374T>A	ENSP00000504773.1:p.Val125Glu
ENST00000677517.1:c.374T>A	ENSP00000503519.1:p.Val125Glu
ENST00000677633.1:c.*124T>A	ENSP00000503645.1:n.*124T>A
ENST00000677800.1:c.*3805T>A	ENSP00000503794.1:n.*3805T>A
ENST00000678057.1:c.*265T>A	ENSP00000503762.1:n.*265T>A
ENST00000678119.1:n.895T>A
ENST00000678166.1:n.861-109T>A
ENST00000678312.1:n.1038T>A
ENST00000678316.1:c.*124T>A	ENSP00000504112.1:n.*124T>A
ENST00000678371.1:n.1059T>A
ENST00000678404.1:c.701T>A	ENSP00000503944.1:p.Val234Glu
ENST00000678419.1:c.701T>A	ENSP00000504085.1:p.Val234Glu
ENST00000678433.1:n.1061T>A
ENST00000678467.1:c.701T>A	ENSP00000504072.1:p.Val234Glu
ENST00000678569.1:c.701T>A	ENSP00000504261.1:p.Val234Glu
ENST00000678961.1:n.884T>A
ENST00000679002.1:n.880T>A
ENST00000679012.1:c.257T>A	ENSP00000504446.1:p.Val86Glu
ENST00000679070.1:c.*124T>A	ENSP00000503759.1:n.*124T>A
ENST00000679130.1:c.701T>A	ENSP00000504845.1:p.Val234Glu
ENST00000679315.1:c.*531T>A	ENSP00000503065.1:n.*531T>A
ENST00000243583.10:c.578T>A	ENSP00000243583.5:p.Val193Glu
ENST00000324464.7:c.701T>A	ENSP00000315118.3:p.Val234Glu
ENST00000595254.5:c.374T>A	ENSP00000470894.1:p.Val125Glu
ENST00000596455.5:n.821T>A
ENST00000599643.5:c.336-109T>A	ENSP00000471192.1:n.336-109T>A
ENST00000601304.5:c.*475T>A	ENSP00000472519.1:n.*475T>A
NM_001142555.2:c.578T>A	NP_001136027.1:p.Val193Glu
NM_024876.3:c.701T>A	NP_079152.3:p.Val234Glu
XM_005259270.3:c.863T>A	XP_005259327.2:p.Val288Glu
XM_005259271.3:c.701T>A	XP_005259328.1:p.Val234Glu
XM_005259272.3:c.701T>A	XP_005259329.1:p.Val234Glu
XM_005259273.3:c.701T>A	XP_005259330.1:p.Val234Glu
XM_006723392.2:c.701T>A	XP_006723455.1:p.Val234Glu
XM_006723393.2:c.701T>A	XP_006723456.1:p.Val234Glu
XM_011527334.1:c.701T>A	XP_011525636.1:p.Val234Glu
XM_011527335.1:c.577-109T>A	XP_011525637.1:n.577-109T>A
XM_011527336.1:c.731T>A	XP_011525638.1:p.Val244Glu
XM_011527337.1:c.701T>A	XP_011525639.1:p.Val234Glu
XM_011527338.1:c.701T>A	XP_011525640.1:p.Val234Glu
NM_024876.4:c.701T>A MANE Select	NP_079152.3:p.Val234Glu
NM_001142555.3:c.578T>A	NP_001136027.1:p.Val193Glu