Canonical Allele Identifier: CA16572397

Gene: COQ8B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40703351A>G , CM000681.2:g.40703351A>G	GRCh38
NC_000019.9:g.41209256A>G , CM000681.1:g.41209256A>G	GRCh37
NC_000019.8:g.45901096A>G	NCBI36
NG_027800.1:g.18535T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024876.4:c.799+190T>C MANE Select	NP_079152.3:n.799+190T>C
ENST00000324464.8:c.799+190T>C MANE Select	ENSP00000315118.3:n.799+190T>C
NM_001142555.2:c.676+190T>C	NP_001136027.1:n.676+190T>C
NM_001142555.3:c.676+190T>C	NP_001136027.1:n.676+190T>C
NM_024876.3:c.799+190T>C	NP_079152.3:n.799+190T>C
ENST00000243583.10:c.676+190T>C	ENSP00000243583.5:n.676+190T>C
ENST00000324464.7:c.799+190T>C	ENSP00000315118.3:n.799+190T>C
ENST00000593724.2:n.474+190T>C
ENST00000594490.6:c.721+190T>C	ENSP00000471310.2:n.721+190T>C
ENST00000594720.6:c.799+190T>C	ENSP00000470876.2:n.799+190T>C
ENST00000595254.5:c.472+190T>C	ENSP00000470894.1:n.472+190T>C
ENST00000596455.5:n.919+190T>C
ENST00000596455.6:n.1091+190T>C
ENST00000599643.5:c.*241+18T>C	ENSP00000471192.1:n.*241+18T>C
ENST00000601967.6:c.799+190T>C	ENSP00000470916.2:n.799+190T>C
ENST00000676555.1:c.799+190T>C	ENSP00000503387.1:n.799+190T>C
ENST00000676578.1:c.*541+190T>C	ENSP00000504076.1:n.*541+190T>C
ENST00000676960.1:n.924+190T>C
ENST00000676962.1:n.1078+190T>C
ENST00000677018.1:c.799+190T>C	ENSP00000503480.1:n.799+190T>C
ENST00000677039.1:n.854+190T>C
ENST00000677399.1:n.1241+190T>C
ENST00000677496.1:c.472+190T>C	ENSP00000504773.1:n.472+190T>C
ENST00000677517.1:c.472+190T>C	ENSP00000503519.1:n.472+190T>C
ENST00000677633.1:c.*222+190T>C	ENSP00000503645.1:n.*222+190T>C
ENST00000677800.1:c.*3903+190T>C	ENSP00000503794.1:n.*3903+190T>C
ENST00000678057.1:c.*363+190T>C	ENSP00000503762.1:n.*363+190T>C
ENST00000678119.1:n.993+190T>C
ENST00000678166.1:n.942+190T>C
ENST00000678312.1:n.1136+190T>C
ENST00000678316.1:c.*222+190T>C	ENSP00000504112.1:n.*222+190T>C
ENST00000678371.1:n.1249+190T>C
ENST00000678404.1:c.799+190T>C	ENSP00000503944.1:n.799+190T>C
ENST00000678419.1:c.799+190T>C	ENSP00000504085.1:n.799+190T>C
ENST00000678433.1:n.1159+190T>C
ENST00000678467.1:c.799+190T>C	ENSP00000504072.1:n.799+190T>C
ENST00000678569.1:c.799+190T>C	ENSP00000504261.1:n.799+190T>C
ENST00000678961.1:n.1154+18T>C
ENST00000679002.1:n.978+190T>C
ENST00000679012.1:c.355+190T>C	ENSP00000504446.1:n.355+190T>C
ENST00000679070.1:c.*222+190T>C	ENSP00000503759.1:n.*222+190T>C
ENST00000679130.1:c.799+190T>C	ENSP00000504845.1:n.799+190T>C
ENST00000679315.1:c.*629+190T>C	ENSP00000503065.1:n.*629+190T>C
XM_005259270.3:c.961+190T>C	XP_005259327.2:n.961+190T>C
XM_005259271.3:c.799+190T>C	XP_005259328.1:n.799+190T>C
XM_005259272.3:c.799+190T>C	XP_005259329.1:n.799+190T>C
XM_005259273.3:c.799+190T>C	XP_005259330.1:n.799+190T>C
XM_006723392.2:c.799+190T>C	XP_006723455.1:n.799+190T>C
XM_006723393.2:c.799+190T>C	XP_006723456.1:n.799+190T>C
XM_011527334.1:c.799+190T>C	XP_011525636.1:n.799+190T>C
XM_011527335.1:c.658+190T>C	XP_011525637.1:n.658+190T>C
XM_011527336.1:c.829+190T>C	XP_011525638.1:n.829+190T>C
XM_011527337.1:c.799+190T>C	XP_011525639.1:n.799+190T>C
XM_011527338.1:c.799+190T>C	XP_011525640.1:n.799+190T>C