Canonical Allele Identifier: CA405964208

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41209699A>G (hg19) ; chr19:g.40703794A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40703794A>G , CM000681.2:g.40703794A>G	GRCh38
NC_000019.9:g.41209699A>G , CM000681.1:g.41209699A>G	GRCh37
NC_000019.8:g.45901539A>G	NCBI36
NG_027800.1:g.18092T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.638T>C MANE Select	ENSP00000315118.3:p.Val213Ala
ENST00000593724.2:n.393-172T>C
ENST00000594490.6:c.560T>C	ENSP00000471310.2:p.Val187Ala
ENST00000594720.6:c.638T>C	ENSP00000470876.2:p.Val213Ala
ENST00000596455.6:n.930T>C
ENST00000601967.6:c.638T>C	ENSP00000470916.2:p.Val213Ala
ENST00000676555.1:c.638T>C	ENSP00000503387.1:p.Val213Ala
ENST00000676578.1:c.*380T>C	ENSP00000504076.1:n.*380T>C
ENST00000676960.1:n.763T>C
ENST00000676962.1:n.917T>C
ENST00000677018.1:c.638T>C	ENSP00000503480.1:p.Val213Ala
ENST00000677039.1:n.693T>C
ENST00000677399.1:n.1080T>C
ENST00000677496.1:c.311T>C	ENSP00000504773.1:p.Val104Ala
ENST00000677517.1:c.311T>C	ENSP00000503519.1:p.Val104Ala
ENST00000677633.1:c.*61T>C	ENSP00000503645.1:n.*61T>C
ENST00000677800.1:c.*3742T>C	ENSP00000503794.1:n.*3742T>C
ENST00000678057.1:c.*202T>C	ENSP00000503762.1:n.*202T>C
ENST00000678119.1:n.832T>C
ENST00000678166.1:n.861-172T>C
ENST00000678312.1:n.975T>C
ENST00000678316.1:c.*61T>C	ENSP00000504112.1:n.*61T>C
ENST00000678371.1:n.996T>C
ENST00000678404.1:c.638T>C	ENSP00000503944.1:p.Val213Ala
ENST00000678419.1:c.638T>C	ENSP00000504085.1:p.Val213Ala
ENST00000678433.1:n.998T>C
ENST00000678467.1:c.638T>C	ENSP00000504072.1:p.Val213Ala
ENST00000678569.1:c.638T>C	ENSP00000504261.1:p.Val213Ala
ENST00000678961.1:n.821T>C
ENST00000679002.1:n.817T>C
ENST00000679012.1:c.194T>C	ENSP00000504446.1:p.Val65Ala
ENST00000679070.1:c.*61T>C	ENSP00000503759.1:n.*61T>C
ENST00000679130.1:c.638T>C	ENSP00000504845.1:p.Val213Ala
ENST00000679315.1:c.*468T>C	ENSP00000503065.1:n.*468T>C
ENST00000243583.10:c.515T>C	ENSP00000243583.5:p.Val172Ala
ENST00000324464.7:c.638T>C	ENSP00000315118.3:p.Val213Ala
ENST00000595254.5:c.311T>C	ENSP00000470894.1:p.Val104Ala
ENST00000596455.5:n.758T>C
ENST00000599643.5:c.336-172T>C	ENSP00000471192.1:n.336-172T>C
ENST00000601304.5:c.*412T>C	ENSP00000472519.1:n.*412T>C
ENST00000601967.5:c.638T>C	ENSP00000470916.1:p.Val213Ala
NM_001142555.2:c.515T>C	NP_001136027.1:p.Val172Ala
NM_024876.3:c.638T>C	NP_079152.3:p.Val213Ala
XM_005259270.3:c.800T>C	XP_005259327.2:p.Val267Ala
XM_005259271.3:c.638T>C	XP_005259328.1:p.Val213Ala
XM_005259272.3:c.638T>C	XP_005259329.1:p.Val213Ala
XM_005259273.3:c.638T>C	XP_005259330.1:p.Val213Ala
XM_006723392.2:c.638T>C	XP_006723455.1:p.Val213Ala
XM_006723393.2:c.638T>C	XP_006723456.1:p.Val213Ala
XM_011527334.1:c.638T>C	XP_011525636.1:p.Val213Ala
XM_011527335.1:c.577-172T>C	XP_011525637.1:n.577-172T>C
XM_011527336.1:c.668T>C	XP_011525638.1:p.Val223Ala
XM_011527337.1:c.638T>C	XP_011525639.1:p.Val213Ala
XM_011527338.1:c.638T>C	XP_011525640.1:p.Val213Ala
NM_024876.4:c.638T>C MANE Select	NP_079152.3:p.Val213Ala
NM_001142555.3:c.515T>C	NP_001136027.1:p.Val172Ala