Canonical Allele Identifier: CA507685748

Gene: COQ8B

Linked Data

• ClinVar Variation Id: 2766205
• ClinVar RCV Id: RCV003580180
• MyVariant Identifiers: chr19:g.41198009A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692104A>G , CM000681.2:g.40692104A>G	GRCh38
NC_000019.9:g.41198009A>G , CM000681.1:g.41198009A>G	GRCh37
NC_000019.8:g.45889849A>G	NCBI36
NG_027800.1:g.29782T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1566T>C MANE Select	ENSP00000315118.3:p.Ser522=
ENST00000593724.2:n.3389T>C
ENST00000594490.6:c.1488T>C	ENSP00000471310.2:p.Ser496=
ENST00000594720.6:c.1566T>C	ENSP00000470876.2:p.Ser522=
ENST00000596455.6:n.1858T>C
ENST00000601967.6:c.1566T>C	ENSP00000470916.2:p.Ser522=
ENST00000676555.1:c.*991T>C	ENSP00000503387.1:n.*991T>C
ENST00000676578.1:c.*1308T>C	ENSP00000504076.1:n.*1308T>C
ENST00000676960.1:n.1691T>C
ENST00000676962.1:n.1845T>C
ENST00000677018.1:c.1566T>C	ENSP00000503480.1:p.Ser522=
ENST00000677039.1:n.3769T>C
ENST00000677399.1:n.2008T>C
ENST00000677496.1:c.1239T>C	ENSP00000504773.1:p.Ser413=
ENST00000677517.1:c.1239T>C	ENSP00000503519.1:p.Ser413=
ENST00000677633.1:c.*989T>C	ENSP00000503645.1:n.*989T>C
ENST00000677800.1:c.*4670T>C	ENSP00000503794.1:n.*4670T>C
ENST00000678057.1:c.*1130T>C	ENSP00000503762.1:n.*1130T>C
ENST00000678119.1:n.1760T>C
ENST00000678166.1:n.1709T>C
ENST00000678312.1:n.1903T>C
ENST00000678316.1:c.*989T>C	ENSP00000504112.1:n.*989T>C
ENST00000678371.1:n.2016T>C
ENST00000678404.1:c.1566T>C	ENSP00000503944.1:p.Ser522=
ENST00000678419.1:c.1566T>C	ENSP00000504085.1:p.Ser522=
ENST00000678433.1:n.1922T>C
ENST00000678467.1:c.1566T>C	ENSP00000504072.1:p.Ser522=
ENST00000678569.1:c.*551T>C	ENSP00000504261.1:n.*551T>C
ENST00000678961.1:n.1921T>C
ENST00000679002.1:n.1745T>C
ENST00000679012.1:c.1122T>C	ENSP00000504446.1:p.Ser374=
ENST00000679070.1:c.*985T>C	ENSP00000503759.1:n.*985T>C
ENST00000679130.1:c.1566T>C	ENSP00000504845.1:p.Ser522=
ENST00000679315.1:c.*1396T>C	ENSP00000503065.1:n.*1396T>C
ENST00000243583.10:c.1443T>C	ENSP00000243583.5:p.Ser481=
ENST00000324464.7:c.1566T>C	ENSP00000315118.3:p.Ser522=
ENST00000593724.1:n.1681T>C
NM_001142555.2:c.1443T>C	NP_001136027.1:p.Ser481=
NM_024876.3:c.1566T>C	NP_079152.3:p.Ser522=
XM_005259270.3:c.1728T>C	XP_005259327.2:p.Ser576=
XM_005259271.3:c.1566T>C	XP_005259328.1:p.Ser522=
XM_005259272.3:c.1566T>C	XP_005259329.1:p.Ser522=
XM_005259273.3:c.1566T>C	XP_005259330.1:p.Ser522=
XM_006723392.2:c.1566T>C	XP_006723455.1:p.Ser522=
XM_006723393.2:c.1566T>C	XP_006723456.1:p.Ser522=
XM_011527334.1:c.1566T>C	XP_011525636.1:p.Ser522=
XM_011527335.1:c.1425T>C	XP_011525637.1:p.Ser475=
XM_011527336.1:c.1596T>C	XP_011525638.1:p.Ser532=
XM_011527337.1:c.1566T>C	XP_011525639.1:p.Ser522=
XM_011527338.1:c.1566T>C	XP_011525640.1:p.Ser522=
NM_024876.4:c.1566T>C MANE Select	NP_079152.3:p.Ser522=
NM_001142555.3:c.1443T>C	NP_001136027.1:p.Ser481=