Canonical Allele Identifier: CA405960751

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41206247A>T (hg19) ; chr19:g.40700342A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40700342A>T , CM000681.2:g.40700342A>T	GRCh38
NC_000019.9:g.41206247A>T , CM000681.1:g.41206247A>T	GRCh37
NC_000019.8:g.45898087A>T	NCBI36
NG_027800.1:g.21544T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1003T>A MANE Select	ENSP00000315118.3:p.Cys335Ser
ENST00000593724.2:n.2826T>A
ENST00000594490.6:c.925T>A	ENSP00000471310.2:p.Cys309Ser
ENST00000594720.6:c.1003T>A	ENSP00000470876.2:p.Cys335Ser
ENST00000596455.6:n.1295T>A
ENST00000601967.6:c.1003T>A	ENSP00000470916.2:p.Cys335Ser
ENST00000676555.1:c.1003T>A	ENSP00000503387.1:p.Cys335Ser
ENST00000676578.1:c.*745T>A	ENSP00000504076.1:n.*745T>A
ENST00000676960.1:n.1128T>A
ENST00000676962.1:n.1282T>A
ENST00000677018.1:c.1003T>A	ENSP00000503480.1:p.Cys335Ser
ENST00000677039.1:n.3206T>A
ENST00000677399.1:n.1445T>A
ENST00000677496.1:c.676T>A	ENSP00000504773.1:p.Cys226Ser
ENST00000677517.1:c.676T>A	ENSP00000503519.1:p.Cys226Ser
ENST00000677633.1:c.*426T>A	ENSP00000503645.1:n.*426T>A
ENST00000677800.1:c.*4107T>A	ENSP00000503794.1:n.*4107T>A
ENST00000678057.1:c.*567T>A	ENSP00000503762.1:n.*567T>A
ENST00000678119.1:n.1197T>A
ENST00000678166.1:n.1146T>A
ENST00000678312.1:n.1340T>A
ENST00000678316.1:c.*426T>A	ENSP00000504112.1:n.*426T>A
ENST00000678371.1:n.1453T>A
ENST00000678404.1:c.1003T>A	ENSP00000503944.1:p.Cys335Ser
ENST00000678419.1:c.1003T>A	ENSP00000504085.1:p.Cys335Ser
ENST00000678433.1:n.1359T>A
ENST00000678467.1:c.1003T>A	ENSP00000504072.1:p.Cys335Ser
ENST00000678569.1:c.999T>A	ENSP00000504261.1:p.Ser333Arg
ENST00000678961.1:n.1358T>A
ENST00000679002.1:n.1182T>A
ENST00000679012.1:c.559T>A	ENSP00000504446.1:p.Cys187Ser
ENST00000679070.1:c.*422T>A	ENSP00000503759.1:n.*422T>A
ENST00000679130.1:c.1003T>A	ENSP00000504845.1:p.Cys335Ser
ENST00000679315.1:c.*833T>A	ENSP00000503065.1:n.*833T>A
ENST00000243583.10:c.880T>A	ENSP00000243583.5:p.Cys294Ser
ENST00000324464.7:c.1003T>A	ENSP00000315118.3:p.Cys335Ser
ENST00000593724.1:n.1118T>A
NM_001142555.2:c.880T>A	NP_001136027.1:p.Cys294Ser
NM_024876.3:c.1003T>A	NP_079152.3:p.Cys335Ser
XM_005259270.3:c.1165T>A	XP_005259327.2:p.Cys389Ser
XM_005259271.3:c.1003T>A	XP_005259328.1:p.Cys335Ser
XM_005259272.3:c.1003T>A	XP_005259329.1:p.Cys335Ser
XM_005259273.3:c.1003T>A	XP_005259330.1:p.Cys335Ser
XM_006723392.2:c.1003T>A	XP_006723455.1:p.Cys335Ser
XM_006723393.2:c.1003T>A	XP_006723456.1:p.Cys335Ser
XM_011527334.1:c.1003T>A	XP_011525636.1:p.Cys335Ser
XM_011527335.1:c.862T>A	XP_011525637.1:p.Cys288Ser
XM_011527336.1:c.1033T>A	XP_011525638.1:p.Cys345Ser
XM_011527337.1:c.1003T>A	XP_011525639.1:p.Cys335Ser
XM_011527338.1:c.1003T>A	XP_011525640.1:p.Cys335Ser
NM_024876.4:c.1003T>A MANE Select	NP_079152.3:p.Cys335Ser
NM_001142555.3:c.880T>A	NP_001136027.1:p.Cys294Ser