Canonical Allele Identifier: CA405957979

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41198232G>C (hg19) ; chr19:g.40692327G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692327G>C , CM000681.2:g.40692327G>C	GRCh38
NC_000019.9:g.41198232G>C , CM000681.1:g.41198232G>C	GRCh37
NC_000019.8:g.45890072G>C	NCBI36
NG_027800.1:g.29559C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1343C>G MANE Select	ENSP00000315118.3:p.Pro448Arg
ENST00000593724.2:n.3166C>G
ENST00000594490.6:c.1265C>G	ENSP00000471310.2:p.Pro422Arg
ENST00000594720.6:c.1343C>G	ENSP00000470876.2:p.Pro448Arg
ENST00000596455.6:n.1635C>G
ENST00000601967.6:c.1343C>G	ENSP00000470916.2:p.Pro448Arg
ENST00000676555.1:c.*768C>G	ENSP00000503387.1:n.*768C>G
ENST00000676578.1:c.*1085C>G	ENSP00000504076.1:n.*1085C>G
ENST00000676960.1:n.1468C>G
ENST00000676962.1:n.1622C>G
ENST00000677018.1:c.1343C>G	ENSP00000503480.1:p.Pro448Arg
ENST00000677039.1:n.3546C>G
ENST00000677399.1:n.1785C>G
ENST00000677496.1:c.1016C>G	ENSP00000504773.1:p.Pro339Arg
ENST00000677517.1:c.1016C>G	ENSP00000503519.1:p.Pro339Arg
ENST00000677633.1:c.*766C>G	ENSP00000503645.1:n.*766C>G
ENST00000677800.1:c.*4447C>G	ENSP00000503794.1:n.*4447C>G
ENST00000678057.1:c.*907C>G	ENSP00000503762.1:n.*907C>G
ENST00000678119.1:n.1537C>G
ENST00000678166.1:n.1486C>G
ENST00000678312.1:n.1680C>G
ENST00000678316.1:c.*766C>G	ENSP00000504112.1:n.*766C>G
ENST00000678371.1:n.1793C>G
ENST00000678404.1:c.1343C>G	ENSP00000503944.1:p.Pro448Arg
ENST00000678419.1:c.1343C>G	ENSP00000504085.1:p.Pro448Arg
ENST00000678433.1:n.1699C>G
ENST00000678467.1:c.1343C>G	ENSP00000504072.1:p.Pro448Arg
ENST00000678569.1:c.*328C>G	ENSP00000504261.1:n.*328C>G
ENST00000678961.1:n.1698C>G
ENST00000679002.1:n.1522C>G
ENST00000679012.1:c.899C>G	ENSP00000504446.1:p.Pro300Arg
ENST00000679070.1:c.*762C>G	ENSP00000503759.1:n.*762C>G
ENST00000679130.1:c.1343C>G	ENSP00000504845.1:p.Pro448Arg
ENST00000679315.1:c.*1173C>G	ENSP00000503065.1:n.*1173C>G
ENST00000243583.10:c.1220C>G	ENSP00000243583.5:p.Pro407Arg
ENST00000324464.7:c.1343C>G	ENSP00000315118.3:p.Pro448Arg
ENST00000593724.1:n.1458C>G
NM_001142555.2:c.1220C>G	NP_001136027.1:p.Pro407Arg
NM_024876.3:c.1343C>G	NP_079152.3:p.Pro448Arg
XM_005259270.3:c.1505C>G	XP_005259327.2:p.Pro502Arg
XM_005259271.3:c.1343C>G	XP_005259328.1:p.Pro448Arg
XM_005259272.3:c.1343C>G	XP_005259329.1:p.Pro448Arg
XM_005259273.3:c.1343C>G	XP_005259330.1:p.Pro448Arg
XM_006723392.2:c.1343C>G	XP_006723455.1:p.Pro448Arg
XM_006723393.2:c.1343C>G	XP_006723456.1:p.Pro448Arg
XM_011527334.1:c.1343C>G	XP_011525636.1:p.Pro448Arg
XM_011527335.1:c.1202C>G	XP_011525637.1:p.Pro401Arg
XM_011527336.1:c.1373C>G	XP_011525638.1:p.Pro458Arg
XM_011527337.1:c.1343C>G	XP_011525639.1:p.Pro448Arg
XM_011527338.1:c.1343C>G	XP_011525640.1:p.Pro448Arg
NM_024876.4:c.1343C>G MANE Select	NP_079152.3:p.Pro448Arg
NM_001142555.3:c.1220C>G	NP_001136027.1:p.Pro407Arg