Canonical Allele Identifier: CA507503556

Gene: COQ8B

Linked Data

• dbSNP Id: rs1264076108
• gnomAD v2: 19-41206257-G-T
• gnomAD v4: 19-40700352-G-T
• MyVariant Identifiers: chr19:g.41206257G>T (hg19) ; chr19:g.40700352G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40700352G>T , CM000681.2:g.40700352G>T	GRCh38
NC_000019.9:g.41206257G>T , CM000681.1:g.41206257G>T	GRCh37
NC_000019.8:g.45898097G>T	NCBI36
NG_027800.1:g.21534C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.993C>A MANE Select	ENSP00000315118.3:p.Pro331=
ENST00000593724.2:n.2816C>A
ENST00000594490.6:c.915C>A	ENSP00000471310.2:p.Pro305=
ENST00000594720.6:c.993C>A	ENSP00000470876.2:p.Pro331=
ENST00000596455.6:n.1285C>A
ENST00000601967.6:c.993C>A	ENSP00000470916.2:p.Pro331=
ENST00000676555.1:c.993C>A	ENSP00000503387.1:p.Pro331=
ENST00000676578.1:c.*735C>A	ENSP00000504076.1:n.*735C>A
ENST00000676960.1:n.1118C>A
ENST00000676962.1:n.1272C>A
ENST00000677018.1:c.993C>A	ENSP00000503480.1:p.Pro331=
ENST00000677039.1:n.3196C>A
ENST00000677399.1:n.1435C>A
ENST00000677496.1:c.666C>A	ENSP00000504773.1:p.Pro222=
ENST00000677517.1:c.666C>A	ENSP00000503519.1:p.Pro222=
ENST00000677633.1:c.*416C>A	ENSP00000503645.1:n.*416C>A
ENST00000677800.1:c.*4097C>A	ENSP00000503794.1:n.*4097C>A
ENST00000678057.1:c.*557C>A	ENSP00000503762.1:n.*557C>A
ENST00000678119.1:n.1187C>A
ENST00000678166.1:n.1136C>A
ENST00000678312.1:n.1330C>A
ENST00000678316.1:c.*416C>A	ENSP00000504112.1:n.*416C>A
ENST00000678371.1:n.1443C>A
ENST00000678404.1:c.993C>A	ENSP00000503944.1:p.Pro331=
ENST00000678419.1:c.993C>A	ENSP00000504085.1:p.Pro331=
ENST00000678433.1:n.1349C>A
ENST00000678467.1:c.993C>A	ENSP00000504072.1:p.Pro331=
ENST00000678569.1:c.989C>A	ENSP00000504261.1:p.Pro330His
ENST00000678961.1:n.1348C>A
ENST00000679002.1:n.1172C>A
ENST00000679012.1:c.549C>A	ENSP00000504446.1:p.Pro183=
ENST00000679070.1:c.*412C>A	ENSP00000503759.1:n.*412C>A
ENST00000679130.1:c.993C>A	ENSP00000504845.1:p.Pro331=
ENST00000679315.1:c.*823C>A	ENSP00000503065.1:n.*823C>A
ENST00000243583.10:c.870C>A	ENSP00000243583.5:p.Pro290=
ENST00000324464.7:c.993C>A	ENSP00000315118.3:p.Pro331=
ENST00000593724.1:n.1108C>A
NM_001142555.2:c.870C>A	NP_001136027.1:p.Pro290=
NM_024876.3:c.993C>A	NP_079152.3:p.Pro331=
XM_005259270.3:c.1155C>A	XP_005259327.2:p.Pro385=
XM_005259271.3:c.993C>A	XP_005259328.1:p.Pro331=
XM_005259272.3:c.993C>A	XP_005259329.1:p.Pro331=
XM_005259273.3:c.993C>A	XP_005259330.1:p.Pro331=
XM_006723392.2:c.993C>A	XP_006723455.1:p.Pro331=
XM_006723393.2:c.993C>A	XP_006723456.1:p.Pro331=
XM_011527334.1:c.993C>A	XP_011525636.1:p.Pro331=
XM_011527335.1:c.852C>A	XP_011525637.1:p.Pro284=
XM_011527336.1:c.1023C>A	XP_011525638.1:p.Pro341=
XM_011527337.1:c.993C>A	XP_011525639.1:p.Pro331=
XM_011527338.1:c.993C>A	XP_011525640.1:p.Pro331=
NM_024876.4:c.993C>A MANE Select	NP_079152.3:p.Pro331=
NM_001142555.3:c.870C>A	NP_001136027.1:p.Pro290=