Canonical Allele Identifier: CA882275041

Gene: COQ8B

Linked Data

• dbSNP Id: rs1236711584
• gnomAD v3: 19-40703701-G-A
• gnomAD v4: 19-40703701-G-A
• MyVariant Identifiers: chr19:g.41209606G>A (hg19) ; chr19:g.40703701G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40703701G>A , CM000681.2:g.40703701G>A	GRCh38
NC_000019.9:g.41209606G>A , CM000681.1:g.41209606G>A	GRCh37
NC_000019.8:g.45901446G>A	NCBI36
NG_027800.1:g.18185C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.717+14C>T MANE Select	ENSP00000315118.3:n.717+14C>T
ENST00000593724.2:n.393-79C>T
ENST00000594490.6:c.639+14C>T	ENSP00000471310.2:n.639+14C>T
ENST00000594720.6:c.717+14C>T	ENSP00000470876.2:n.717+14C>T
ENST00000596455.6:n.1009+14C>T
ENST00000601967.6:c.717+14C>T	ENSP00000470916.2:n.717+14C>T
ENST00000676555.1:c.717+14C>T	ENSP00000503387.1:n.717+14C>T
ENST00000676578.1:c.*459+14C>T	ENSP00000504076.1:n.*459+14C>T
ENST00000676960.1:n.842+14C>T
ENST00000676962.1:n.996+14C>T
ENST00000677018.1:c.717+14C>T	ENSP00000503480.1:n.717+14C>T
ENST00000677039.1:n.772+14C>T
ENST00000677399.1:n.1159+14C>T
ENST00000677496.1:c.390+14C>T	ENSP00000504773.1:n.390+14C>T
ENST00000677517.1:c.390+14C>T	ENSP00000503519.1:n.390+14C>T
ENST00000677633.1:c.*140+14C>T	ENSP00000503645.1:n.*140+14C>T
ENST00000677800.1:c.*3821+14C>T	ENSP00000503794.1:n.*3821+14C>T
ENST00000678057.1:c.*281+14C>T	ENSP00000503762.1:n.*281+14C>T
ENST00000678119.1:n.911+14C>T
ENST00000678166.1:n.861-79C>T
ENST00000678312.1:n.1054+14C>T
ENST00000678316.1:c.*140+14C>T	ENSP00000504112.1:n.*140+14C>T
ENST00000678371.1:n.1089C>T
ENST00000678404.1:c.717+14C>T	ENSP00000503944.1:n.717+14C>T
ENST00000678419.1:c.717+14C>T	ENSP00000504085.1:n.717+14C>T
ENST00000678433.1:n.1077+14C>T
ENST00000678467.1:c.717+14C>T	ENSP00000504072.1:n.717+14C>T
ENST00000678569.1:c.717+14C>T	ENSP00000504261.1:n.717+14C>T
ENST00000678961.1:n.900+14C>T
ENST00000679002.1:n.896+14C>T
ENST00000679012.1:c.273+14C>T	ENSP00000504446.1:n.273+14C>T
ENST00000679070.1:c.*140+14C>T	ENSP00000503759.1:n.*140+14C>T
ENST00000679130.1:c.717+14C>T	ENSP00000504845.1:n.717+14C>T
ENST00000679315.1:c.*547+14C>T	ENSP00000503065.1:n.*547+14C>T
ENST00000243583.10:c.594+14C>T	ENSP00000243583.5:n.594+14C>T
ENST00000324464.7:c.717+14C>T	ENSP00000315118.3:n.717+14C>T
ENST00000595254.5:c.390+14C>T	ENSP00000470894.1:n.390+14C>T
ENST00000596455.5:n.837+14C>T
ENST00000599643.5:c.336-79C>T	ENSP00000471192.1:n.336-79C>T
NM_001142555.2:c.594+14C>T	NP_001136027.1:n.594+14C>T
NM_024876.3:c.717+14C>T	NP_079152.3:n.717+14C>T
XM_005259270.3:c.879+14C>T	XP_005259327.2:n.879+14C>T
XM_005259271.3:c.717+14C>T	XP_005259328.1:n.717+14C>T
XM_005259272.3:c.717+14C>T	XP_005259329.1:n.717+14C>T
XM_005259273.3:c.717+14C>T	XP_005259330.1:n.717+14C>T
XM_006723392.2:c.717+14C>T	XP_006723455.1:n.717+14C>T
XM_006723393.2:c.717+14C>T	XP_006723456.1:n.717+14C>T
XM_011527334.1:c.717+14C>T	XP_011525636.1:n.717+14C>T
XM_011527335.1:c.577-79C>T	XP_011525637.1:n.577-79C>T
XM_011527336.1:c.747+14C>T	XP_011525638.1:n.747+14C>T
XM_011527337.1:c.717+14C>T	XP_011525639.1:n.717+14C>T
XM_011527338.1:c.717+14C>T	XP_011525640.1:n.717+14C>T
NM_024876.4:c.717+14C>T MANE Select	NP_079152.3:n.717+14C>T
NM_001142555.3:c.594+14C>T	NP_001136027.1:n.594+14C>T