Canonical Allele Identifier: CA405958017

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41198241A>C (hg19) ; chr19:g.40692336A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692336A>C , CM000681.2:g.40692336A>C	GRCh38
NC_000019.9:g.41198241A>C , CM000681.1:g.41198241A>C	GRCh37
NC_000019.8:g.45890081A>C	NCBI36
NG_027800.1:g.29550T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1334T>G MANE Select	ENSP00000315118.3:p.Leu445Arg
ENST00000593724.2:n.3157T>G
ENST00000594490.6:c.1256T>G	ENSP00000471310.2:p.Leu419Arg
ENST00000594720.6:c.1334T>G	ENSP00000470876.2:p.Leu445Arg
ENST00000596455.6:n.1626T>G
ENST00000601967.6:c.1334T>G	ENSP00000470916.2:p.Leu445Arg
ENST00000676555.1:c.*759T>G	ENSP00000503387.1:n.*759T>G
ENST00000676578.1:c.*1076T>G	ENSP00000504076.1:n.*1076T>G
ENST00000676960.1:n.1459T>G
ENST00000676962.1:n.1613T>G
ENST00000677018.1:c.1334T>G	ENSP00000503480.1:p.Leu445Arg
ENST00000677039.1:n.3537T>G
ENST00000677399.1:n.1776T>G
ENST00000677496.1:c.1007T>G	ENSP00000504773.1:p.Leu336Arg
ENST00000677517.1:c.1007T>G	ENSP00000503519.1:p.Leu336Arg
ENST00000677633.1:c.*757T>G	ENSP00000503645.1:n.*757T>G
ENST00000677800.1:c.*4438T>G	ENSP00000503794.1:n.*4438T>G
ENST00000678057.1:c.*898T>G	ENSP00000503762.1:n.*898T>G
ENST00000678119.1:n.1528T>G
ENST00000678166.1:n.1477T>G
ENST00000678312.1:n.1671T>G
ENST00000678316.1:c.*757T>G	ENSP00000504112.1:n.*757T>G
ENST00000678371.1:n.1784T>G
ENST00000678404.1:c.1334T>G	ENSP00000503944.1:p.Leu445Arg
ENST00000678419.1:c.1334T>G	ENSP00000504085.1:p.Leu445Arg
ENST00000678433.1:n.1690T>G
ENST00000678467.1:c.1334T>G	ENSP00000504072.1:p.Leu445Arg
ENST00000678569.1:c.*319T>G	ENSP00000504261.1:n.*319T>G
ENST00000678961.1:n.1689T>G
ENST00000679002.1:n.1513T>G
ENST00000679012.1:c.890T>G	ENSP00000504446.1:p.Leu297Arg
ENST00000679070.1:c.*753T>G	ENSP00000503759.1:n.*753T>G
ENST00000679130.1:c.1334T>G	ENSP00000504845.1:p.Leu445Arg
ENST00000679315.1:c.*1164T>G	ENSP00000503065.1:n.*1164T>G
ENST00000243583.10:c.1211T>G	ENSP00000243583.5:p.Leu404Arg
ENST00000324464.7:c.1334T>G	ENSP00000315118.3:p.Leu445Arg
ENST00000593724.1:n.1449T>G
NM_001142555.2:c.1211T>G	NP_001136027.1:p.Leu404Arg
NM_024876.3:c.1334T>G	NP_079152.3:p.Leu445Arg
XM_005259270.3:c.1496T>G	XP_005259327.2:p.Leu499Arg
XM_005259271.3:c.1334T>G	XP_005259328.1:p.Leu445Arg
XM_005259272.3:c.1334T>G	XP_005259329.1:p.Leu445Arg
XM_005259273.3:c.1334T>G	XP_005259330.1:p.Leu445Arg
XM_006723392.2:c.1334T>G	XP_006723455.1:p.Leu445Arg
XM_006723393.2:c.1334T>G	XP_006723456.1:p.Leu445Arg
XM_011527334.1:c.1334T>G	XP_011525636.1:p.Leu445Arg
XM_011527335.1:c.1193T>G	XP_011525637.1:p.Leu398Arg
XM_011527336.1:c.1364T>G	XP_011525638.1:p.Leu455Arg
XM_011527337.1:c.1334T>G	XP_011525639.1:p.Leu445Arg
XM_011527338.1:c.1334T>G	XP_011525640.1:p.Leu445Arg
NM_024876.4:c.1334T>G MANE Select	NP_079152.3:p.Leu445Arg
NM_001142555.3:c.1211T>G	NP_001136027.1:p.Leu404Arg