Canonical Allele Identifier: CA405957812

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41198191T>G (hg19) ; chr19:g.40692286T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692286T>G , CM000681.2:g.40692286T>G	GRCh38
NC_000019.9:g.41198191T>G , CM000681.1:g.41198191T>G	GRCh37
NC_000019.8:g.45890031T>G	NCBI36
NG_027800.1:g.29600A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1384A>C MANE Select	ENSP00000315118.3:p.Thr462Pro
ENST00000593724.2:n.3207A>C
ENST00000594490.6:c.1306A>C	ENSP00000471310.2:p.Thr436Pro
ENST00000594720.6:c.1384A>C	ENSP00000470876.2:p.Thr462Pro
ENST00000596455.6:n.1676A>C
ENST00000601967.6:c.1384A>C	ENSP00000470916.2:p.Thr462Pro
ENST00000676555.1:c.*809A>C	ENSP00000503387.1:n.*809A>C
ENST00000676578.1:c.*1126A>C	ENSP00000504076.1:n.*1126A>C
ENST00000676960.1:n.1509A>C
ENST00000676962.1:n.1663A>C
ENST00000677018.1:c.1384A>C	ENSP00000503480.1:p.Thr462Pro
ENST00000677039.1:n.3587A>C
ENST00000677399.1:n.1826A>C
ENST00000677496.1:c.1057A>C	ENSP00000504773.1:p.Thr353Pro
ENST00000677517.1:c.1057A>C	ENSP00000503519.1:p.Thr353Pro
ENST00000677633.1:c.*807A>C	ENSP00000503645.1:n.*807A>C
ENST00000677800.1:c.*4488A>C	ENSP00000503794.1:n.*4488A>C
ENST00000678057.1:c.*948A>C	ENSP00000503762.1:n.*948A>C
ENST00000678119.1:n.1578A>C
ENST00000678166.1:n.1527A>C
ENST00000678312.1:n.1721A>C
ENST00000678316.1:c.*807A>C	ENSP00000504112.1:n.*807A>C
ENST00000678371.1:n.1834A>C
ENST00000678404.1:c.1384A>C	ENSP00000503944.1:p.Thr462Pro
ENST00000678419.1:c.1384A>C	ENSP00000504085.1:p.Thr462Pro
ENST00000678433.1:n.1740A>C
ENST00000678467.1:c.1384A>C	ENSP00000504072.1:p.Thr462Pro
ENST00000678569.1:c.*369A>C	ENSP00000504261.1:n.*369A>C
ENST00000678961.1:n.1739A>C
ENST00000679002.1:n.1563A>C
ENST00000679012.1:c.940A>C	ENSP00000504446.1:p.Thr314Pro
ENST00000679070.1:c.*803A>C	ENSP00000503759.1:n.*803A>C
ENST00000679130.1:c.1384A>C	ENSP00000504845.1:p.Thr462Pro
ENST00000679315.1:c.*1214A>C	ENSP00000503065.1:n.*1214A>C
ENST00000243583.10:c.1261A>C	ENSP00000243583.5:p.Thr421Pro
ENST00000324464.7:c.1384A>C	ENSP00000315118.3:p.Thr462Pro
ENST00000593724.1:n.1499A>C
NM_001142555.2:c.1261A>C	NP_001136027.1:p.Thr421Pro
NM_024876.3:c.1384A>C	NP_079152.3:p.Thr462Pro
XM_005259270.3:c.1546A>C	XP_005259327.2:p.Thr516Pro
XM_005259271.3:c.1384A>C	XP_005259328.1:p.Thr462Pro
XM_005259272.3:c.1384A>C	XP_005259329.1:p.Thr462Pro
XM_005259273.3:c.1384A>C	XP_005259330.1:p.Thr462Pro
XM_006723392.2:c.1384A>C	XP_006723455.1:p.Thr462Pro
XM_006723393.2:c.1384A>C	XP_006723456.1:p.Thr462Pro
XM_011527334.1:c.1384A>C	XP_011525636.1:p.Thr462Pro
XM_011527335.1:c.1243A>C	XP_011525637.1:p.Thr415Pro
XM_011527336.1:c.1414A>C	XP_011525638.1:p.Thr472Pro
XM_011527337.1:c.1384A>C	XP_011525639.1:p.Thr462Pro
XM_011527338.1:c.1384A>C	XP_011525640.1:p.Thr462Pro
NM_024876.4:c.1384A>C MANE Select	NP_079152.3:p.Thr462Pro
NM_001142555.3:c.1261A>C	NP_001136027.1:p.Thr421Pro