Canonical Allele Identifier: CA405957367

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41198004T>G (hg19) ; chr19:g.40692099T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692099T>G , CM000681.2:g.40692099T>G	GRCh38
NC_000019.9:g.41198004T>G , CM000681.1:g.41198004T>G	GRCh37
NC_000019.8:g.45889844T>G	NCBI36
NG_027800.1:g.29787A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1571A>C MANE Select	ENSP00000315118.3:p.Gln524Pro
ENST00000593724.2:n.3394A>C
ENST00000594490.6:c.1493A>C	ENSP00000471310.2:p.Gln498Pro
ENST00000594720.6:c.1571A>C	ENSP00000470876.2:p.Gln524Pro
ENST00000596455.6:n.1863A>C
ENST00000601967.6:c.1571A>C	ENSP00000470916.2:p.Gln524Pro
ENST00000676555.1:c.*996A>C	ENSP00000503387.1:n.*996A>C
ENST00000676578.1:c.*1313A>C	ENSP00000504076.1:n.*1313A>C
ENST00000676960.1:n.1696A>C
ENST00000676962.1:n.1850A>C
ENST00000677018.1:c.1571A>C	ENSP00000503480.1:p.Gln524Pro
ENST00000677039.1:n.3774A>C
ENST00000677399.1:n.2013A>C
ENST00000677496.1:c.1244A>C	ENSP00000504773.1:p.Gln415Pro
ENST00000677517.1:c.1244A>C	ENSP00000503519.1:p.Gln415Pro
ENST00000677633.1:c.*994A>C	ENSP00000503645.1:n.*994A>C
ENST00000677800.1:c.*4675A>C	ENSP00000503794.1:n.*4675A>C
ENST00000678057.1:c.*1135A>C	ENSP00000503762.1:n.*1135A>C
ENST00000678119.1:n.1765A>C
ENST00000678166.1:n.1714A>C
ENST00000678312.1:n.1908A>C
ENST00000678316.1:c.*994A>C	ENSP00000504112.1:n.*994A>C
ENST00000678371.1:n.2021A>C
ENST00000678404.1:c.1571A>C	ENSP00000503944.1:p.Gln524Pro
ENST00000678419.1:c.1571A>C	ENSP00000504085.1:p.Gln524Pro
ENST00000678433.1:n.1927A>C
ENST00000678467.1:c.1571A>C	ENSP00000504072.1:p.Gln524Pro
ENST00000678569.1:c.*556A>C	ENSP00000504261.1:n.*556A>C
ENST00000678961.1:n.1926A>C
ENST00000679002.1:n.1750A>C
ENST00000679012.1:c.1127A>C	ENSP00000504446.1:p.Gln376Pro
ENST00000679070.1:c.*990A>C	ENSP00000503759.1:n.*990A>C
ENST00000679130.1:c.1571A>C	ENSP00000504845.1:p.Gln524Pro
ENST00000679315.1:c.*1401A>C	ENSP00000503065.1:n.*1401A>C
ENST00000243583.10:c.1448A>C	ENSP00000243583.5:p.Gln483Pro
ENST00000324464.7:c.1571A>C	ENSP00000315118.3:p.Gln524Pro
ENST00000593724.1:n.1686A>C
NM_001142555.2:c.1448A>C	NP_001136027.1:p.Gln483Pro
NM_024876.3:c.1571A>C	NP_079152.3:p.Gln524Pro
XM_005259270.3:c.1733A>C	XP_005259327.2:p.Gln578Pro
XM_005259271.3:c.1571A>C	XP_005259328.1:p.Gln524Pro
XM_005259272.3:c.1571A>C	XP_005259329.1:p.Gln524Pro
XM_005259273.3:c.1571A>C	XP_005259330.1:p.Gln524Pro
XM_006723392.2:c.1571A>C	XP_006723455.1:p.Gln524Pro
XM_006723393.2:c.1571A>C	XP_006723456.1:p.Gln524Pro
XM_011527334.1:c.1571A>C	XP_011525636.1:p.Gln524Pro
XM_011527335.1:c.1430A>C	XP_011525637.1:p.Gln477Pro
XM_011527336.1:c.1601A>C	XP_011525638.1:p.Gln534Pro
XM_011527337.1:c.1571A>C	XP_011525639.1:p.Gln524Pro
XM_011527338.1:c.1571A>C	XP_011525640.1:p.Gln524Pro
NM_024876.4:c.1571A>C MANE Select	NP_079152.3:p.Gln524Pro
NM_001142555.3:c.1448A>C	NP_001136027.1:p.Gln483Pro