Canonical Allele Identifier: CA405960704

Gene: COQ8B

Linked Data

• gnomAD v4: 19-40700333-G-C
• MyVariant Identifiers: chr19:g.41206238G>C (hg19) ; chr19:g.40700333G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40700333G>C , CM000681.2:g.40700333G>C	GRCh38
NC_000019.9:g.41206238G>C , CM000681.1:g.41206238G>C	GRCh37
NC_000019.8:g.45898078G>C	NCBI36
NG_027800.1:g.21553C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1012C>G MANE Select	ENSP00000315118.3:p.Leu338Val
ENST00000593724.2:n.2835C>G
ENST00000594490.6:c.934C>G	ENSP00000471310.2:p.Leu312Val
ENST00000594720.6:c.1012C>G	ENSP00000470876.2:p.Leu338Val
ENST00000596455.6:n.1304C>G
ENST00000601967.6:c.1012C>G	ENSP00000470916.2:p.Leu338Val
ENST00000676555.1:c.1012C>G	ENSP00000503387.1:p.Leu338Val
ENST00000676578.1:c.*754C>G	ENSP00000504076.1:n.*754C>G
ENST00000676960.1:n.1137C>G
ENST00000676962.1:n.1291C>G
ENST00000677018.1:c.1012C>G	ENSP00000503480.1:p.Leu338Val
ENST00000677039.1:n.3215C>G
ENST00000677399.1:n.1454C>G
ENST00000677496.1:c.685C>G	ENSP00000504773.1:p.Leu229Val
ENST00000677517.1:c.685C>G	ENSP00000503519.1:p.Leu229Val
ENST00000677633.1:c.*435C>G	ENSP00000503645.1:n.*435C>G
ENST00000677800.1:c.*4116C>G	ENSP00000503794.1:n.*4116C>G
ENST00000678057.1:c.*576C>G	ENSP00000503762.1:n.*576C>G
ENST00000678119.1:n.1206C>G
ENST00000678166.1:n.1155C>G
ENST00000678312.1:n.1349C>G
ENST00000678316.1:c.*435C>G	ENSP00000504112.1:n.*435C>G
ENST00000678371.1:n.1462C>G
ENST00000678404.1:c.1012C>G	ENSP00000503944.1:p.Leu338Val
ENST00000678419.1:c.1012C>G	ENSP00000504085.1:p.Leu338Val
ENST00000678433.1:n.1368C>G
ENST00000678467.1:c.1012C>G	ENSP00000504072.1:p.Leu338Val
ENST00000678569.1:c.1008C>G	ENSP00000504261.1:p.Ala336=
ENST00000678961.1:n.1367C>G
ENST00000679002.1:n.1191C>G
ENST00000679012.1:c.568C>G	ENSP00000504446.1:p.Leu190Val
ENST00000679070.1:c.*431C>G	ENSP00000503759.1:n.*431C>G
ENST00000679130.1:c.1012C>G	ENSP00000504845.1:p.Leu338Val
ENST00000679315.1:c.*842C>G	ENSP00000503065.1:n.*842C>G
ENST00000243583.10:c.889C>G	ENSP00000243583.5:p.Leu297Val
ENST00000324464.7:c.1012C>G	ENSP00000315118.3:p.Leu338Val
ENST00000593724.1:n.1127C>G
NM_001142555.2:c.889C>G	NP_001136027.1:p.Leu297Val
NM_024876.3:c.1012C>G	NP_079152.3:p.Leu338Val
XM_005259270.3:c.1174C>G	XP_005259327.2:p.Leu392Val
XM_005259271.3:c.1012C>G	XP_005259328.1:p.Leu338Val
XM_005259272.3:c.1012C>G	XP_005259329.1:p.Leu338Val
XM_005259273.3:c.1012C>G	XP_005259330.1:p.Leu338Val
XM_006723392.2:c.1012C>G	XP_006723455.1:p.Leu338Val
XM_006723393.2:c.1012C>G	XP_006723456.1:p.Leu338Val
XM_011527334.1:c.1012C>G	XP_011525636.1:p.Leu338Val
XM_011527335.1:c.871C>G	XP_011525637.1:p.Leu291Val
XM_011527336.1:c.1042C>G	XP_011525638.1:p.Leu348Val
XM_011527337.1:c.1012C>G	XP_011525639.1:p.Leu338Val
XM_011527338.1:c.1012C>G	XP_011525640.1:p.Leu338Val
NM_024876.4:c.1012C>G MANE Select	NP_079152.3:p.Leu338Val
NM_001142555.3:c.889C>G	NP_001136027.1:p.Leu297Val