Canonical Allele Identifier: CA405963749

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41209618A>C (hg19) ; chr19:g.40703713A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40703713A>C , CM000681.2:g.40703713A>C	GRCh38
NC_000019.9:g.41209618A>C , CM000681.1:g.41209618A>C	GRCh37
NC_000019.8:g.45901458A>C	NCBI36
NG_027800.1:g.18173T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.717+2T>G MANE Select	ENSP00000315118.3:n.717+2T>G
ENST00000593724.2:n.393-91T>G
ENST00000594490.6:c.639+2T>G	ENSP00000471310.2:n.639+2T>G
ENST00000594720.6:c.717+2T>G	ENSP00000470876.2:n.717+2T>G
ENST00000596455.6:n.1009+2T>G
ENST00000601967.6:c.717+2T>G	ENSP00000470916.2:n.717+2T>G
ENST00000676555.1:c.717+2T>G	ENSP00000503387.1:n.717+2T>G
ENST00000676578.1:c.*459+2T>G	ENSP00000504076.1:n.*459+2T>G
ENST00000676960.1:n.842+2T>G
ENST00000676962.1:n.996+2T>G
ENST00000677018.1:c.717+2T>G	ENSP00000503480.1:n.717+2T>G
ENST00000677039.1:n.772+2T>G
ENST00000677399.1:n.1159+2T>G
ENST00000677496.1:c.390+2T>G	ENSP00000504773.1:n.390+2T>G
ENST00000677517.1:c.390+2T>G	ENSP00000503519.1:n.390+2T>G
ENST00000677633.1:c.*140+2T>G	ENSP00000503645.1:n.*140+2T>G
ENST00000677800.1:c.*3821+2T>G	ENSP00000503794.1:n.*3821+2T>G
ENST00000678057.1:c.*281+2T>G	ENSP00000503762.1:n.*281+2T>G
ENST00000678119.1:n.911+2T>G
ENST00000678166.1:n.861-91T>G
ENST00000678312.1:n.1054+2T>G
ENST00000678316.1:c.*140+2T>G	ENSP00000504112.1:n.*140+2T>G
ENST00000678371.1:n.1077T>G
ENST00000678404.1:c.717+2T>G	ENSP00000503944.1:n.717+2T>G
ENST00000678419.1:c.717+2T>G	ENSP00000504085.1:n.717+2T>G
ENST00000678433.1:n.1077+2T>G
ENST00000678467.1:c.717+2T>G	ENSP00000504072.1:n.717+2T>G
ENST00000678569.1:c.717+2T>G	ENSP00000504261.1:n.717+2T>G
ENST00000678961.1:n.900+2T>G
ENST00000679002.1:n.896+2T>G
ENST00000679012.1:c.273+2T>G	ENSP00000504446.1:n.273+2T>G
ENST00000679070.1:c.*140+2T>G	ENSP00000503759.1:n.*140+2T>G
ENST00000679130.1:c.717+2T>G	ENSP00000504845.1:n.717+2T>G
ENST00000679315.1:c.*547+2T>G	ENSP00000503065.1:n.*547+2T>G
ENST00000243583.10:c.594+2T>G	ENSP00000243583.5:n.594+2T>G
ENST00000324464.7:c.717+2T>G	ENSP00000315118.3:n.717+2T>G
ENST00000595254.5:c.390+2T>G	ENSP00000470894.1:n.390+2T>G
ENST00000596455.5:n.837+2T>G
ENST00000599643.5:c.336-91T>G	ENSP00000471192.1:n.336-91T>G
NM_001142555.2:c.594+2T>G	NP_001136027.1:n.594+2T>G
NM_024876.3:c.717+2T>G	NP_079152.3:n.717+2T>G
XM_005259270.3:c.879+2T>G	XP_005259327.2:n.879+2T>G
XM_005259271.3:c.717+2T>G	XP_005259328.1:n.717+2T>G
XM_005259272.3:c.717+2T>G	XP_005259329.1:n.717+2T>G
XM_005259273.3:c.717+2T>G	XP_005259330.1:n.717+2T>G
XM_006723392.2:c.717+2T>G	XP_006723455.1:n.717+2T>G
XM_006723393.2:c.717+2T>G	XP_006723456.1:n.717+2T>G
XM_011527334.1:c.717+2T>G	XP_011525636.1:n.717+2T>G
XM_011527335.1:c.577-91T>G	XP_011525637.1:n.577-91T>G
XM_011527336.1:c.747+2T>G	XP_011525638.1:n.747+2T>G
XM_011527337.1:c.717+2T>G	XP_011525639.1:n.717+2T>G
XM_011527338.1:c.717+2T>G	XP_011525640.1:n.717+2T>G
NM_024876.4:c.717+2T>G MANE Select	NP_079152.3:n.717+2T>G
NM_001142555.3:c.594+2T>G	NP_001136027.1:n.594+2T>G