Canonical Allele Identifier: CA405957239

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41197945A>C (hg19) ; chr19:g.40692040A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692040A>C , CM000681.2:g.40692040A>C	GRCh38
NC_000019.9:g.41197945A>C , CM000681.1:g.41197945A>C	GRCh37
NC_000019.8:g.45889785A>C	NCBI36
NG_027800.1:g.29846T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1630T>G MANE Select	ENSP00000315118.3:p.Ser544Ala
ENST00000593724.2:n.3453T>G
ENST00000594490.6:c.1552T>G	ENSP00000471310.2:p.Ser518Ala
ENST00000594720.6:c.1630T>G	ENSP00000470876.2:p.Ser544Ala
ENST00000596455.6:n.1922T>G
ENST00000601967.6:c.1630T>G	ENSP00000470916.2:p.Ser544Ala
ENST00000676555.1:c.*1055T>G	ENSP00000503387.1:n.*1055T>G
ENST00000676578.1:c.*1372T>G	ENSP00000504076.1:n.*1372T>G
ENST00000676960.1:n.1755T>G
ENST00000676962.1:n.1909T>G
ENST00000677018.1:c.1630T>G	ENSP00000503480.1:p.Ser544Ala
ENST00000677039.1:n.3833T>G
ENST00000677399.1:n.2072T>G
ENST00000677496.1:c.1303T>G	ENSP00000504773.1:p.Ser435Ala
ENST00000677517.1:c.1303T>G	ENSP00000503519.1:p.Ser435Ala
ENST00000677633.1:c.*1053T>G	ENSP00000503645.1:n.*1053T>G
ENST00000677800.1:c.*4734T>G	ENSP00000503794.1:n.*4734T>G
ENST00000678057.1:c.*1194T>G	ENSP00000503762.1:n.*1194T>G
ENST00000678119.1:n.1824T>G
ENST00000678166.1:n.1773T>G
ENST00000678312.1:n.1967T>G
ENST00000678316.1:c.*1053T>G	ENSP00000504112.1:n.*1053T>G
ENST00000678371.1:n.2080T>G
ENST00000678404.1:c.1630T>G	ENSP00000503944.1:p.Ser544Ala
ENST00000678419.1:c.1630T>G	ENSP00000504085.1:p.Ser544Ala
ENST00000678433.1:n.1986T>G
ENST00000678467.1:c.1630T>G	ENSP00000504072.1:p.Ser544Ala
ENST00000678569.1:c.*615T>G	ENSP00000504261.1:n.*615T>G
ENST00000678961.1:n.1985T>G
ENST00000679002.1:n.1809T>G
ENST00000679012.1:c.1186T>G	ENSP00000504446.1:p.Ser396Ala
ENST00000679070.1:c.*1049T>G	ENSP00000503759.1:n.*1049T>G
ENST00000679130.1:c.1630T>G	ENSP00000504845.1:p.Ser544Ala
ENST00000679315.1:c.*1460T>G	ENSP00000503065.1:n.*1460T>G
ENST00000243583.10:c.1507T>G	ENSP00000243583.5:p.Ser503Ala
ENST00000324464.7:c.1630T>G	ENSP00000315118.3:p.Ser544Ala
ENST00000593724.1:n.1745T>G
NM_001142555.2:c.1507T>G	NP_001136027.1:p.Ser503Ala
NM_024876.3:c.1630T>G	NP_079152.3:p.Ser544Ala
XM_005259270.3:c.1792T>G	XP_005259327.2:p.Ser598Ala
XM_005259271.3:c.1630T>G	XP_005259328.1:p.Ser544Ala
XM_005259272.3:c.1630T>G	XP_005259329.1:p.Ser544Ala
XM_005259273.3:c.1630T>G	XP_005259330.1:p.Ser544Ala
XM_006723392.2:c.1630T>G	XP_006723455.1:p.Ser544Ala
XM_006723393.2:c.1630T>G	XP_006723456.1:p.Ser544Ala
XM_011527334.1:c.1630T>G	XP_011525636.1:p.Ser544Ala
XM_011527335.1:c.1489T>G	XP_011525637.1:p.Ser497Ala
XM_011527336.1:c.1660T>G	XP_011525638.1:p.Ser554Ala
XM_011527337.1:c.1630T>G	XP_011525639.1:p.Ser544Ala
XM_011527338.1:c.1630T>G	XP_011525640.1:p.Ser544Ala
NM_024876.4:c.1630T>G MANE Select	NP_079152.3:p.Ser544Ala
NM_001142555.3:c.1507T>G	NP_001136027.1:p.Ser503Ala