Canonical Allele Identifier: CA9449963

Gene: COQ8B

Linked Data

• ClinVar Variation Id: 385429
• ClinVar RCV Id: RCV000430471 ; RCV002506050
• dbSNP Id: rs61742811
• ExAC: 19:41197930 A / G
• gnomAD v2: 19-41197930-A-G
• gnomAD v3: 19-40692025-A-G
• gnomAD v4: 19-40692025-A-G
• MyVariant Identifiers: chr19:g.41197930A>G (hg19) ; chr19:g.40692025A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692025A>G , CM000681.2:g.40692025A>G	GRCh38
NC_000019.9:g.41197930A>G , CM000681.1:g.41197930A>G	GRCh37
NC_000019.8:g.45889770A>G	NCBI36
NG_027800.1:g.29861T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.*10T>C MANE Select	ENSP00000315118.3:n.*10T>C
ENST00000593724.2:n.3468T>C
ENST00000594490.6:c.*10T>C	ENSP00000471310.2:n.*10T>C
ENST00000594720.6:c.*10T>C	ENSP00000470876.2:n.*10T>C
ENST00000596455.6:n.1937T>C
ENST00000601967.6:c.*10T>C	ENSP00000470916.2:n.*10T>C
ENST00000676555.1:c.*1070T>C	ENSP00000503387.1:n.*1070T>C
ENST00000676578.1:c.*1387T>C	ENSP00000504076.1:n.*1387T>C
ENST00000676960.1:n.1770T>C
ENST00000676962.1:n.1924T>C
ENST00000677018.1:c.*10T>C	ENSP00000503480.1:n.*10T>C
ENST00000677039.1:n.3848T>C
ENST00000677399.1:n.2087T>C
ENST00000677496.1:c.*10T>C	ENSP00000504773.1:n.*10T>C
ENST00000677517.1:c.*10T>C	ENSP00000503519.1:n.*10T>C
ENST00000677633.1:c.*1068T>C	ENSP00000503645.1:n.*1068T>C
ENST00000677800.1:c.*4749T>C	ENSP00000503794.1:n.*4749T>C
ENST00000678057.1:c.*1209T>C	ENSP00000503762.1:n.*1209T>C
ENST00000678119.1:n.1839T>C
ENST00000678166.1:n.1788T>C
ENST00000678312.1:n.1982T>C
ENST00000678316.1:c.*1068T>C	ENSP00000504112.1:n.*1068T>C
ENST00000678371.1:n.2095T>C
ENST00000678404.1:c.*10T>C	ENSP00000503944.1:n.*10T>C
ENST00000678419.1:c.*10T>C	ENSP00000504085.1:n.*10T>C
ENST00000678433.1:n.2001T>C
ENST00000678467.1:c.*10T>C	ENSP00000504072.1:n.*10T>C
ENST00000678569.1:c.*630T>C	ENSP00000504261.1:n.*630T>C
ENST00000678961.1:n.2000T>C
ENST00000679002.1:n.1824T>C
ENST00000679012.1:c.*10T>C	ENSP00000504446.1:n.*10T>C
ENST00000679070.1:c.*1064T>C	ENSP00000503759.1:n.*1064T>C
ENST00000679130.1:c.*10T>C	ENSP00000504845.1:n.*10T>C
ENST00000679315.1:c.*1475T>C	ENSP00000503065.1:n.*1475T>C
ENST00000243583.10:c.*10T>C	ENSP00000243583.5:n.*10T>C
ENST00000324464.7:c.*10T>C	ENSP00000315118.3:n.*10T>C
ENST00000593724.1:n.1760T>C
NM_001142555.2:c.*10T>C	NP_001136027.1:n.*10T>C
NM_024876.3:c.*10T>C	NP_079152.3:n.*10T>C
XM_005259270.3:c.*10T>C	XP_005259327.2:n.*10T>C
XM_005259271.3:c.*10T>C	XP_005259328.1:n.*10T>C
XM_005259272.3:c.*10T>C	XP_005259329.1:n.*10T>C
XM_005259273.3:c.*10T>C	XP_005259330.1:n.*10T>C
XM_006723392.2:c.*10T>C	XP_006723455.1:n.*10T>C
XM_006723393.2:c.*10T>C	XP_006723456.1:n.*10T>C
XM_011527334.1:c.*10T>C	XP_011525636.1:n.*10T>C
XM_011527335.1:c.*10T>C	XP_011525637.1:n.*10T>C
XM_011527336.1:c.*10T>C	XP_011525638.1:n.*10T>C
XM_011527337.1:c.*10T>C	XP_011525639.1:n.*10T>C
XM_011527338.1:c.*10T>C	XP_011525640.1:n.*10T>C
NM_024876.4:c.*10T>C MANE Select	NP_079152.3:n.*10T>C
NM_001142555.3:c.*10T>C	NP_001136027.1:n.*10T>C