Canonical Allele Identifier: CA405963786

Gene: COQ8B

Linked Data

• dbSNP Id: rs2082079635
• gnomAD v3: 19-40703718-G-C
• gnomAD v4: 19-40703718-G-C
• MyVariant Identifiers: chr19:g.41209623G>C (hg19) ; chr19:g.40703718G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40703718G>C , CM000681.2:g.40703718G>C	GRCh38
NC_000019.9:g.41209623G>C , CM000681.1:g.41209623G>C	GRCh37
NC_000019.8:g.45901463G>C	NCBI36
NG_027800.1:g.18168C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.714C>G MANE Select	ENSP00000315118.3:p.Ile238Met
ENST00000593724.2:n.393-96C>G
ENST00000594490.6:c.636C>G	ENSP00000471310.2:p.Ile212Met
ENST00000594720.6:c.714C>G	ENSP00000470876.2:p.Ile238Met
ENST00000596455.6:n.1006C>G
ENST00000601967.6:c.714C>G	ENSP00000470916.2:p.Ile238Met
ENST00000676555.1:c.714C>G	ENSP00000503387.1:p.Ile238Met
ENST00000676578.1:c.*456C>G	ENSP00000504076.1:n.*456C>G
ENST00000676960.1:n.839C>G
ENST00000676962.1:n.993C>G
ENST00000677018.1:c.714C>G	ENSP00000503480.1:p.Ile238Met
ENST00000677039.1:n.769C>G
ENST00000677399.1:n.1156C>G
ENST00000677496.1:c.387C>G	ENSP00000504773.1:p.Ile129Met
ENST00000677517.1:c.387C>G	ENSP00000503519.1:p.Ile129Met
ENST00000677633.1:c.*137C>G	ENSP00000503645.1:n.*137C>G
ENST00000677800.1:c.*3818C>G	ENSP00000503794.1:n.*3818C>G
ENST00000678057.1:c.*278C>G	ENSP00000503762.1:n.*278C>G
ENST00000678119.1:n.908C>G
ENST00000678166.1:n.861-96C>G
ENST00000678312.1:n.1051C>G
ENST00000678316.1:c.*137C>G	ENSP00000504112.1:n.*137C>G
ENST00000678371.1:n.1072C>G
ENST00000678404.1:c.714C>G	ENSP00000503944.1:p.Ile238Met
ENST00000678419.1:c.714C>G	ENSP00000504085.1:p.Ile238Met
ENST00000678433.1:n.1074C>G
ENST00000678467.1:c.714C>G	ENSP00000504072.1:p.Ile238Met
ENST00000678569.1:c.714C>G	ENSP00000504261.1:p.Ile238Met
ENST00000678961.1:n.897C>G
ENST00000679002.1:n.893C>G
ENST00000679012.1:c.270C>G	ENSP00000504446.1:p.Ile90Met
ENST00000679070.1:c.*137C>G	ENSP00000503759.1:n.*137C>G
ENST00000679130.1:c.714C>G	ENSP00000504845.1:p.Ile238Met
ENST00000679315.1:c.*544C>G	ENSP00000503065.1:n.*544C>G
ENST00000243583.10:c.591C>G	ENSP00000243583.5:p.Ile197Met
ENST00000324464.7:c.714C>G	ENSP00000315118.3:p.Ile238Met
ENST00000595254.5:c.387C>G	ENSP00000470894.1:p.Ile129Met
ENST00000596455.5:n.834C>G
ENST00000599643.5:c.336-96C>G	ENSP00000471192.1:n.336-96C>G
NM_001142555.2:c.591C>G	NP_001136027.1:p.Ile197Met
NM_024876.3:c.714C>G	NP_079152.3:p.Ile238Met
XM_005259270.3:c.876C>G	XP_005259327.2:p.Ile292Met
XM_005259271.3:c.714C>G	XP_005259328.1:p.Ile238Met
XM_005259272.3:c.714C>G	XP_005259329.1:p.Ile238Met
XM_005259273.3:c.714C>G	XP_005259330.1:p.Ile238Met
XM_006723392.2:c.714C>G	XP_006723455.1:p.Ile238Met
XM_006723393.2:c.714C>G	XP_006723456.1:p.Ile238Met
XM_011527334.1:c.714C>G	XP_011525636.1:p.Ile238Met
XM_011527335.1:c.577-96C>G	XP_011525637.1:n.577-96C>G
XM_011527336.1:c.744C>G	XP_011525638.1:p.Ile248Met
XM_011527337.1:c.714C>G	XP_011525639.1:p.Ile238Met
XM_011527338.1:c.714C>G	XP_011525640.1:p.Ile238Met
NM_024876.4:c.714C>G MANE Select	NP_079152.3:p.Ile238Met
NM_001142555.3:c.591C>G	NP_001136027.1:p.Ile197Met