Canonical Allele Identifier: CA9450007

Gene: COQ8B

Linked Data

• dbSNP Id: rs769377621
• ExAC: 19:41198159 C / A
• gnomAD v2: 19-41198159-C-A
• gnomAD v4: 19-40692254-C-A
• MyVariant Identifiers: chr19:g.41198159C>A (hg19) ; chr19:g.40692254C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692254C>A , CM000681.2:g.40692254C>A	GRCh38
NC_000019.9:g.41198159C>A , CM000681.1:g.41198159C>A	GRCh37
NC_000019.8:g.45889999C>A	NCBI36
NG_027800.1:g.29632G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1416G>T MANE Select	ENSP00000315118.3:p.Val472=
ENST00000593724.2:n.3239G>T
ENST00000594490.6:c.1338G>T	ENSP00000471310.2:p.Val446=
ENST00000594720.6:c.1416G>T	ENSP00000470876.2:p.Val472=
ENST00000596455.6:n.1708G>T
ENST00000601967.6:c.1416G>T	ENSP00000470916.2:p.Val472=
ENST00000676555.1:c.*841G>T	ENSP00000503387.1:n.*841G>T
ENST00000676578.1:c.*1158G>T	ENSP00000504076.1:n.*1158G>T
ENST00000676960.1:n.1541G>T
ENST00000676962.1:n.1695G>T
ENST00000677018.1:c.1416G>T	ENSP00000503480.1:p.Val472=
ENST00000677039.1:n.3619G>T
ENST00000677399.1:n.1858G>T
ENST00000677496.1:c.1089G>T	ENSP00000504773.1:p.Val363=
ENST00000677517.1:c.1089G>T	ENSP00000503519.1:p.Val363=
ENST00000677633.1:c.*839G>T	ENSP00000503645.1:n.*839G>T
ENST00000677800.1:c.*4520G>T	ENSP00000503794.1:n.*4520G>T
ENST00000678057.1:c.*980G>T	ENSP00000503762.1:n.*980G>T
ENST00000678119.1:n.1610G>T
ENST00000678166.1:n.1559G>T
ENST00000678312.1:n.1753G>T
ENST00000678316.1:c.*839G>T	ENSP00000504112.1:n.*839G>T
ENST00000678371.1:n.1866G>T
ENST00000678404.1:c.1416G>T	ENSP00000503944.1:p.Val472=
ENST00000678419.1:c.1416G>T	ENSP00000504085.1:p.Val472=
ENST00000678433.1:n.1772G>T
ENST00000678467.1:c.1416G>T	ENSP00000504072.1:p.Val472=
ENST00000678569.1:c.*401G>T	ENSP00000504261.1:n.*401G>T
ENST00000678961.1:n.1771G>T
ENST00000679002.1:n.1595G>T
ENST00000679012.1:c.972G>T	ENSP00000504446.1:p.Val324=
ENST00000679070.1:c.*835G>T	ENSP00000503759.1:n.*835G>T
ENST00000679130.1:c.1416G>T	ENSP00000504845.1:p.Val472=
ENST00000679315.1:c.*1246G>T	ENSP00000503065.1:n.*1246G>T
ENST00000243583.10:c.1293G>T	ENSP00000243583.5:p.Val431=
ENST00000324464.7:c.1416G>T	ENSP00000315118.3:p.Val472=
ENST00000593724.1:n.1531G>T
NM_001142555.2:c.1293G>T	NP_001136027.1:p.Val431=
NM_024876.3:c.1416G>T	NP_079152.3:p.Val472=
XM_005259270.3:c.1578G>T	XP_005259327.2:p.Val526=
XM_005259271.3:c.1416G>T	XP_005259328.1:p.Val472=
XM_005259272.3:c.1416G>T	XP_005259329.1:p.Val472=
XM_005259273.3:c.1416G>T	XP_005259330.1:p.Val472=
XM_006723392.2:c.1416G>T	XP_006723455.1:p.Val472=
XM_006723393.2:c.1416G>T	XP_006723456.1:p.Val472=
XM_011527334.1:c.1416G>T	XP_011525636.1:p.Val472=
XM_011527335.1:c.1275G>T	XP_011525637.1:p.Val425=
XM_011527336.1:c.1446G>T	XP_011525638.1:p.Val482=
XM_011527337.1:c.1416G>T	XP_011525639.1:p.Val472=
XM_011527338.1:c.1416G>T	XP_011525640.1:p.Val472=
NM_024876.4:c.1416G>T MANE Select	NP_079152.3:p.Val472=
NM_001142555.3:c.1293G>T	NP_001136027.1:p.Val431=