Canonical Allele Identifier: CA9450252

Gene: COQ8B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40702698G>C , CM000681.2:g.40702698G>C	GRCh38
NC_000019.9:g.41208603G>C , CM000681.1:g.41208603G>C	GRCh37
NC_000019.8:g.45900443G>C	NCBI36
NG_027800.1:g.19188C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024876.4:c.800-5C>G MANE Select	NP_079152.3:n.800-5C>G
ENST00000324464.8:c.800-5C>G MANE Select	ENSP00000315118.3:n.800-5C>G
NM_001142555.2:c.677-5C>G	NP_001136027.1:n.677-5C>G
NM_001142555.3:c.677-5C>G	NP_001136027.1:n.677-5C>G
NM_024876.3:c.800-5C>G	NP_079152.3:n.800-5C>G
ENST00000243583.10:c.677-5C>G	ENSP00000243583.5:n.677-5C>G
ENST00000324464.7:c.800-5C>G	ENSP00000315118.3:n.800-5C>G
ENST00000593724.2:n.475-5C>G
ENST00000594490.6:c.722-5C>G	ENSP00000471310.2:n.722-5C>G
ENST00000594720.6:c.800-5C>G	ENSP00000470876.2:n.800-5C>G
ENST00000595254.5:c.473-5C>G	ENSP00000470894.1:n.473-5C>G
ENST00000596455.5:n.920-5C>G
ENST00000596455.6:n.1092-5C>G
ENST00000599643.5:c.*242-5C>G	ENSP00000471192.1:n.*242-5C>G
ENST00000601967.6:c.800-5C>G	ENSP00000470916.2:n.800-5C>G
ENST00000676555.1:c.800-5C>G	ENSP00000503387.1:n.800-5C>G
ENST00000676578.1:c.*542-5C>G	ENSP00000504076.1:n.*542-5C>G
ENST00000676960.1:n.925-5C>G
ENST00000676962.1:n.1079-5C>G
ENST00000677018.1:c.800-5C>G	ENSP00000503480.1:n.800-5C>G
ENST00000677039.1:n.855-5C>G
ENST00000677399.1:n.1242-5C>G
ENST00000677496.1:c.473-5C>G	ENSP00000504773.1:n.473-5C>G
ENST00000677517.1:c.473-5C>G	ENSP00000503519.1:n.473-5C>G
ENST00000677633.1:c.*223-5C>G	ENSP00000503645.1:n.*223-5C>G
ENST00000677800.1:c.*3904-5C>G	ENSP00000503794.1:n.*3904-5C>G
ENST00000678057.1:c.*364-5C>G	ENSP00000503762.1:n.*364-5C>G
ENST00000678119.1:n.994-5C>G
ENST00000678166.1:n.943-5C>G
ENST00000678312.1:n.1137-5C>G
ENST00000678316.1:c.*223-5C>G	ENSP00000504112.1:n.*223-5C>G
ENST00000678371.1:n.1250-5C>G
ENST00000678404.1:c.800-5C>G	ENSP00000503944.1:n.800-5C>G
ENST00000678419.1:c.800-5C>G	ENSP00000504085.1:n.800-5C>G
ENST00000678433.1:n.1160-5C>G
ENST00000678467.1:c.800-5C>G	ENSP00000504072.1:n.800-5C>G
ENST00000678569.1:c.800-5C>G	ENSP00000504261.1:n.800-5C>G
ENST00000678961.1:n.1155-5C>G
ENST00000679002.1:n.979-5C>G
ENST00000679012.1:c.356-5C>G	ENSP00000504446.1:n.356-5C>G
ENST00000679070.1:c.*223-5C>G	ENSP00000503759.1:n.*223-5C>G
ENST00000679130.1:c.800-5C>G	ENSP00000504845.1:n.800-5C>G
ENST00000679315.1:c.*630-5C>G	ENSP00000503065.1:n.*630-5C>G
XM_005259270.3:c.962-5C>G	XP_005259327.2:n.962-5C>G
XM_005259271.3:c.800-5C>G	XP_005259328.1:n.800-5C>G
XM_005259272.3:c.800-5C>G	XP_005259329.1:n.800-5C>G
XM_005259273.3:c.800-5C>G	XP_005259330.1:n.800-5C>G
XM_006723392.2:c.800-5C>G	XP_006723455.1:n.800-5C>G
XM_006723393.2:c.800-5C>G	XP_006723456.1:n.800-5C>G
XM_011527334.1:c.800-5C>G	XP_011525636.1:n.800-5C>G
XM_011527335.1:c.659-5C>G	XP_011525637.1:n.659-5C>G
XM_011527336.1:c.830-5C>G	XP_011525638.1:n.830-5C>G
XM_011527337.1:c.800-5C>G	XP_011525639.1:n.800-5C>G
XM_011527338.1:c.800-5C>G	XP_011525640.1:n.800-5C>G