Canonical Allele Identifier: CA405964218

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41209700C>G (hg19) ; chr19:g.40703795C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40703795C>G , CM000681.2:g.40703795C>G	GRCh38
NC_000019.9:g.41209700C>G , CM000681.1:g.41209700C>G	GRCh37
NC_000019.8:g.45901540C>G	NCBI36
NG_027800.1:g.18091G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.637G>C MANE Select	ENSP00000315118.3:p.Val213Leu
ENST00000593724.2:n.393-173G>C
ENST00000594490.6:c.559G>C	ENSP00000471310.2:p.Val187Leu
ENST00000594720.6:c.637G>C	ENSP00000470876.2:p.Val213Leu
ENST00000596455.6:n.929G>C
ENST00000601967.6:c.637G>C	ENSP00000470916.2:p.Val213Leu
ENST00000676555.1:c.637G>C	ENSP00000503387.1:p.Val213Leu
ENST00000676578.1:c.*379G>C	ENSP00000504076.1:n.*379G>C
ENST00000676960.1:n.762G>C
ENST00000676962.1:n.916G>C
ENST00000677018.1:c.637G>C	ENSP00000503480.1:p.Val213Leu
ENST00000677039.1:n.692G>C
ENST00000677399.1:n.1079G>C
ENST00000677496.1:c.310G>C	ENSP00000504773.1:p.Val104Leu
ENST00000677517.1:c.310G>C	ENSP00000503519.1:p.Val104Leu
ENST00000677633.1:c.*60G>C	ENSP00000503645.1:n.*60G>C
ENST00000677800.1:c.*3741G>C	ENSP00000503794.1:n.*3741G>C
ENST00000678057.1:c.*201G>C	ENSP00000503762.1:n.*201G>C
ENST00000678119.1:n.831G>C
ENST00000678166.1:n.861-173G>C
ENST00000678312.1:n.974G>C
ENST00000678316.1:c.*60G>C	ENSP00000504112.1:n.*60G>C
ENST00000678371.1:n.995G>C
ENST00000678404.1:c.637G>C	ENSP00000503944.1:p.Val213Leu
ENST00000678419.1:c.637G>C	ENSP00000504085.1:p.Val213Leu
ENST00000678433.1:n.997G>C
ENST00000678467.1:c.637G>C	ENSP00000504072.1:p.Val213Leu
ENST00000678569.1:c.637G>C	ENSP00000504261.1:p.Val213Leu
ENST00000678961.1:n.820G>C
ENST00000679002.1:n.816G>C
ENST00000679012.1:c.193G>C	ENSP00000504446.1:p.Val65Leu
ENST00000679070.1:c.*60G>C	ENSP00000503759.1:n.*60G>C
ENST00000679130.1:c.637G>C	ENSP00000504845.1:p.Val213Leu
ENST00000679315.1:c.*467G>C	ENSP00000503065.1:n.*467G>C
ENST00000243583.10:c.514G>C	ENSP00000243583.5:p.Val172Leu
ENST00000324464.7:c.637G>C	ENSP00000315118.3:p.Val213Leu
ENST00000595254.5:c.310G>C	ENSP00000470894.1:p.Val104Leu
ENST00000596455.5:n.757G>C
ENST00000599643.5:c.336-173G>C	ENSP00000471192.1:n.336-173G>C
ENST00000601304.5:c.*411G>C	ENSP00000472519.1:n.*411G>C
ENST00000601967.5:c.637G>C	ENSP00000470916.1:p.Val213Leu
NM_001142555.2:c.514G>C	NP_001136027.1:p.Val172Leu
NM_024876.3:c.637G>C	NP_079152.3:p.Val213Leu
XM_005259270.3:c.799G>C	XP_005259327.2:p.Val267Leu
XM_005259271.3:c.637G>C	XP_005259328.1:p.Val213Leu
XM_005259272.3:c.637G>C	XP_005259329.1:p.Val213Leu
XM_005259273.3:c.637G>C	XP_005259330.1:p.Val213Leu
XM_006723392.2:c.637G>C	XP_006723455.1:p.Val213Leu
XM_006723393.2:c.637G>C	XP_006723456.1:p.Val213Leu
XM_011527334.1:c.637G>C	XP_011525636.1:p.Val213Leu
XM_011527335.1:c.577-173G>C	XP_011525637.1:n.577-173G>C
XM_011527336.1:c.667G>C	XP_011525638.1:p.Val223Leu
XM_011527337.1:c.637G>C	XP_011525639.1:p.Val213Leu
XM_011527338.1:c.637G>C	XP_011525640.1:p.Val213Leu
NM_024876.4:c.637G>C MANE Select	NP_079152.3:p.Val213Leu
NM_001142555.3:c.514G>C	NP_001136027.1:p.Val172Leu