Canonical Allele Identifier: CA405957830

Gene: COQ8B

Linked Data

• dbSNP Id: rs1174623236
• gnomAD v2: 19-41198196-C-G
• gnomAD v4: 19-40692291-C-G
• MyVariant Identifiers: chr19:g.41198196C>G (hg19) ; chr19:g.40692291C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692291C>G , CM000681.2:g.40692291C>G	GRCh38
NC_000019.9:g.41198196C>G , CM000681.1:g.41198196C>G	GRCh37
NC_000019.8:g.45890036C>G	NCBI36
NG_027800.1:g.29595G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1379G>C MANE Select	ENSP00000315118.3:p.Gly460Ala
ENST00000593724.2:n.3202G>C
ENST00000594490.6:c.1301G>C	ENSP00000471310.2:p.Gly434Ala
ENST00000594720.6:c.1379G>C	ENSP00000470876.2:p.Gly460Ala
ENST00000596455.6:n.1671G>C
ENST00000601967.6:c.1379G>C	ENSP00000470916.2:p.Gly460Ala
ENST00000676555.1:c.*804G>C	ENSP00000503387.1:n.*804G>C
ENST00000676578.1:c.*1121G>C	ENSP00000504076.1:n.*1121G>C
ENST00000676960.1:n.1504G>C
ENST00000676962.1:n.1658G>C
ENST00000677018.1:c.1379G>C	ENSP00000503480.1:p.Gly460Ala
ENST00000677039.1:n.3582G>C
ENST00000677399.1:n.1821G>C
ENST00000677496.1:c.1052G>C	ENSP00000504773.1:p.Gly351Ala
ENST00000677517.1:c.1052G>C	ENSP00000503519.1:p.Gly351Ala
ENST00000677633.1:c.*802G>C	ENSP00000503645.1:n.*802G>C
ENST00000677800.1:c.*4483G>C	ENSP00000503794.1:n.*4483G>C
ENST00000678057.1:c.*943G>C	ENSP00000503762.1:n.*943G>C
ENST00000678119.1:n.1573G>C
ENST00000678166.1:n.1522G>C
ENST00000678312.1:n.1716G>C
ENST00000678316.1:c.*802G>C	ENSP00000504112.1:n.*802G>C
ENST00000678371.1:n.1829G>C
ENST00000678404.1:c.1379G>C	ENSP00000503944.1:p.Gly460Ala
ENST00000678419.1:c.1379G>C	ENSP00000504085.1:p.Gly460Ala
ENST00000678433.1:n.1735G>C
ENST00000678467.1:c.1379G>C	ENSP00000504072.1:p.Gly460Ala
ENST00000678569.1:c.*364G>C	ENSP00000504261.1:n.*364G>C
ENST00000678961.1:n.1734G>C
ENST00000679002.1:n.1558G>C
ENST00000679012.1:c.935G>C	ENSP00000504446.1:p.Gly312Ala
ENST00000679070.1:c.*798G>C	ENSP00000503759.1:n.*798G>C
ENST00000679130.1:c.1379G>C	ENSP00000504845.1:p.Gly460Ala
ENST00000679315.1:c.*1209G>C	ENSP00000503065.1:n.*1209G>C
ENST00000243583.10:c.1256G>C	ENSP00000243583.5:p.Gly419Ala
ENST00000324464.7:c.1379G>C	ENSP00000315118.3:p.Gly460Ala
ENST00000593724.1:n.1494G>C
NM_001142555.2:c.1256G>C	NP_001136027.1:p.Gly419Ala
NM_024876.3:c.1379G>C	NP_079152.3:p.Gly460Ala
XM_005259270.3:c.1541G>C	XP_005259327.2:p.Gly514Ala
XM_005259271.3:c.1379G>C	XP_005259328.1:p.Gly460Ala
XM_005259272.3:c.1379G>C	XP_005259329.1:p.Gly460Ala
XM_005259273.3:c.1379G>C	XP_005259330.1:p.Gly460Ala
XM_006723392.2:c.1379G>C	XP_006723455.1:p.Gly460Ala
XM_006723393.2:c.1379G>C	XP_006723456.1:p.Gly460Ala
XM_011527334.1:c.1379G>C	XP_011525636.1:p.Gly460Ala
XM_011527335.1:c.1238G>C	XP_011525637.1:p.Gly413Ala
XM_011527336.1:c.1409G>C	XP_011525638.1:p.Gly470Ala
XM_011527337.1:c.1379G>C	XP_011525639.1:p.Gly460Ala
XM_011527338.1:c.1379G>C	XP_011525640.1:p.Gly460Ala
NM_024876.4:c.1379G>C MANE Select	NP_079152.3:p.Gly460Ala
NM_001142555.3:c.1256G>C	NP_001136027.1:p.Gly419Ala