Canonical Allele Identifier: CA507686004

Gene: COQ8B

Linked Data

• gnomAD v4: 19-40692257-C-G
• MyVariant Identifiers: chr19:g.41198162C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692257C>G , CM000681.2:g.40692257C>G	GRCh38
NC_000019.9:g.41198162C>G , CM000681.1:g.41198162C>G	GRCh37
NC_000019.8:g.45890002C>G	NCBI36
NG_027800.1:g.29629G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1413G>C MANE Select	ENSP00000315118.3:p.Pro471=
ENST00000593724.2:n.3236G>C
ENST00000594490.6:c.1335G>C	ENSP00000471310.2:p.Pro445=
ENST00000594720.6:c.1413G>C	ENSP00000470876.2:p.Pro471=
ENST00000596455.6:n.1705G>C
ENST00000601967.6:c.1413G>C	ENSP00000470916.2:p.Pro471=
ENST00000676555.1:c.*838G>C	ENSP00000503387.1:n.*838G>C
ENST00000676578.1:c.*1155G>C	ENSP00000504076.1:n.*1155G>C
ENST00000676960.1:n.1538G>C
ENST00000676962.1:n.1692G>C
ENST00000677018.1:c.1413G>C	ENSP00000503480.1:p.Pro471=
ENST00000677039.1:n.3616G>C
ENST00000677399.1:n.1855G>C
ENST00000677496.1:c.1086G>C	ENSP00000504773.1:p.Pro362=
ENST00000677517.1:c.1086G>C	ENSP00000503519.1:p.Pro362=
ENST00000677633.1:c.*836G>C	ENSP00000503645.1:n.*836G>C
ENST00000677800.1:c.*4517G>C	ENSP00000503794.1:n.*4517G>C
ENST00000678057.1:c.*977G>C	ENSP00000503762.1:n.*977G>C
ENST00000678119.1:n.1607G>C
ENST00000678166.1:n.1556G>C
ENST00000678312.1:n.1750G>C
ENST00000678316.1:c.*836G>C	ENSP00000504112.1:n.*836G>C
ENST00000678371.1:n.1863G>C
ENST00000678404.1:c.1413G>C	ENSP00000503944.1:p.Pro471=
ENST00000678419.1:c.1413G>C	ENSP00000504085.1:p.Pro471=
ENST00000678433.1:n.1769G>C
ENST00000678467.1:c.1413G>C	ENSP00000504072.1:p.Pro471=
ENST00000678569.1:c.*398G>C	ENSP00000504261.1:n.*398G>C
ENST00000678961.1:n.1768G>C
ENST00000679002.1:n.1592G>C
ENST00000679012.1:c.969G>C	ENSP00000504446.1:p.Pro323=
ENST00000679070.1:c.*832G>C	ENSP00000503759.1:n.*832G>C
ENST00000679130.1:c.1413G>C	ENSP00000504845.1:p.Pro471=
ENST00000679315.1:c.*1243G>C	ENSP00000503065.1:n.*1243G>C
ENST00000243583.10:c.1290G>C	ENSP00000243583.5:p.Pro430=
ENST00000324464.7:c.1413G>C	ENSP00000315118.3:p.Pro471=
ENST00000593724.1:n.1528G>C
NM_001142555.2:c.1290G>C	NP_001136027.1:p.Pro430=
NM_024876.3:c.1413G>C	NP_079152.3:p.Pro471=
XM_005259270.3:c.1575G>C	XP_005259327.2:p.Pro525=
XM_005259271.3:c.1413G>C	XP_005259328.1:p.Pro471=
XM_005259272.3:c.1413G>C	XP_005259329.1:p.Pro471=
XM_005259273.3:c.1413G>C	XP_005259330.1:p.Pro471=
XM_006723392.2:c.1413G>C	XP_006723455.1:p.Pro471=
XM_006723393.2:c.1413G>C	XP_006723456.1:p.Pro471=
XM_011527334.1:c.1413G>C	XP_011525636.1:p.Pro471=
XM_011527335.1:c.1272G>C	XP_011525637.1:p.Pro424=
XM_011527336.1:c.1443G>C	XP_011525638.1:p.Pro481=
XM_011527337.1:c.1413G>C	XP_011525639.1:p.Pro471=
XM_011527338.1:c.1413G>C	XP_011525640.1:p.Pro471=
NM_024876.4:c.1413G>C MANE Select	NP_079152.3:p.Pro471=
NM_001142555.3:c.1290G>C	NP_001136027.1:p.Pro430=