Canonical Allele Identifier: CA405963835

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41209633G>C (hg19) ; chr19:g.40703728G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40703728G>C , CM000681.2:g.40703728G>C	GRCh38
NC_000019.9:g.41209633G>C , CM000681.1:g.41209633G>C	GRCh37
NC_000019.8:g.45901473G>C	NCBI36
NG_027800.1:g.18158C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.704C>G MANE Select	ENSP00000315118.3:p.Ala235Gly
ENST00000593724.2:n.393-106C>G
ENST00000594490.6:c.626C>G	ENSP00000471310.2:p.Ala209Gly
ENST00000594720.6:c.704C>G	ENSP00000470876.2:p.Ala235Gly
ENST00000596455.6:n.996C>G
ENST00000601967.6:c.704C>G	ENSP00000470916.2:p.Ala235Gly
ENST00000676555.1:c.704C>G	ENSP00000503387.1:p.Ala235Gly
ENST00000676578.1:c.*446C>G	ENSP00000504076.1:n.*446C>G
ENST00000676960.1:n.829C>G
ENST00000676962.1:n.983C>G
ENST00000677018.1:c.704C>G	ENSP00000503480.1:p.Ala235Gly
ENST00000677039.1:n.759C>G
ENST00000677399.1:n.1146C>G
ENST00000677496.1:c.377C>G	ENSP00000504773.1:p.Ala126Gly
ENST00000677517.1:c.377C>G	ENSP00000503519.1:p.Ala126Gly
ENST00000677633.1:c.*127C>G	ENSP00000503645.1:n.*127C>G
ENST00000677800.1:c.*3808C>G	ENSP00000503794.1:n.*3808C>G
ENST00000678057.1:c.*268C>G	ENSP00000503762.1:n.*268C>G
ENST00000678119.1:n.898C>G
ENST00000678166.1:n.861-106C>G
ENST00000678312.1:n.1041C>G
ENST00000678316.1:c.*127C>G	ENSP00000504112.1:n.*127C>G
ENST00000678371.1:n.1062C>G
ENST00000678404.1:c.704C>G	ENSP00000503944.1:p.Ala235Gly
ENST00000678419.1:c.704C>G	ENSP00000504085.1:p.Ala235Gly
ENST00000678433.1:n.1064C>G
ENST00000678467.1:c.704C>G	ENSP00000504072.1:p.Ala235Gly
ENST00000678569.1:c.704C>G	ENSP00000504261.1:p.Ala235Gly
ENST00000678961.1:n.887C>G
ENST00000679002.1:n.883C>G
ENST00000679012.1:c.260C>G	ENSP00000504446.1:p.Ala87Gly
ENST00000679070.1:c.*127C>G	ENSP00000503759.1:n.*127C>G
ENST00000679130.1:c.704C>G	ENSP00000504845.1:p.Ala235Gly
ENST00000679315.1:c.*534C>G	ENSP00000503065.1:n.*534C>G
ENST00000243583.10:c.581C>G	ENSP00000243583.5:p.Ala194Gly
ENST00000324464.7:c.704C>G	ENSP00000315118.3:p.Ala235Gly
ENST00000595254.5:c.377C>G	ENSP00000470894.1:p.Ala126Gly
ENST00000596455.5:n.824C>G
ENST00000599643.5:c.336-106C>G	ENSP00000471192.1:n.336-106C>G
ENST00000601304.5:c.*478C>G	ENSP00000472519.1:n.*478C>G
NM_001142555.2:c.581C>G	NP_001136027.1:p.Ala194Gly
NM_024876.3:c.704C>G	NP_079152.3:p.Ala235Gly
XM_005259270.3:c.866C>G	XP_005259327.2:p.Ala289Gly
XM_005259271.3:c.704C>G	XP_005259328.1:p.Ala235Gly
XM_005259272.3:c.704C>G	XP_005259329.1:p.Ala235Gly
XM_005259273.3:c.704C>G	XP_005259330.1:p.Ala235Gly
XM_006723392.2:c.704C>G	XP_006723455.1:p.Ala235Gly
XM_006723393.2:c.704C>G	XP_006723456.1:p.Ala235Gly
XM_011527334.1:c.704C>G	XP_011525636.1:p.Ala235Gly
XM_011527335.1:c.577-106C>G	XP_011525637.1:n.577-106C>G
XM_011527336.1:c.734C>G	XP_011525638.1:p.Ala245Gly
XM_011527337.1:c.704C>G	XP_011525639.1:p.Ala235Gly
XM_011527338.1:c.704C>G	XP_011525640.1:p.Ala235Gly
NM_024876.4:c.704C>G MANE Select	NP_079152.3:p.Ala235Gly
NM_001142555.3:c.581C>G	NP_001136027.1:p.Ala194Gly