Canonical Allele Identifier: CA405964115

Gene: COQ8B

Linked Data

• gnomAD v4: 19-40703783-C-A
• MyVariant Identifiers: chr19:g.41209688C>A (hg19) ; chr19:g.40703783C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40703783C>A , CM000681.2:g.40703783C>A	GRCh38
NC_000019.9:g.41209688C>A , CM000681.1:g.41209688C>A	GRCh37
NC_000019.8:g.45901528C>A	NCBI36
NG_027800.1:g.18103G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.649G>T MANE Select	ENSP00000315118.3:p.Ala217Ser
ENST00000593724.2:n.393-161G>T
ENST00000594490.6:c.571G>T	ENSP00000471310.2:p.Ala191Ser
ENST00000594720.6:c.649G>T	ENSP00000470876.2:p.Ala217Ser
ENST00000596455.6:n.941G>T
ENST00000601967.6:c.649G>T	ENSP00000470916.2:p.Ala217Ser
ENST00000676555.1:c.649G>T	ENSP00000503387.1:p.Ala217Ser
ENST00000676578.1:c.*391G>T	ENSP00000504076.1:n.*391G>T
ENST00000676960.1:n.774G>T
ENST00000676962.1:n.928G>T
ENST00000677018.1:c.649G>T	ENSP00000503480.1:p.Ala217Ser
ENST00000677039.1:n.704G>T
ENST00000677399.1:n.1091G>T
ENST00000677496.1:c.322G>T	ENSP00000504773.1:p.Ala108Ser
ENST00000677517.1:c.322G>T	ENSP00000503519.1:p.Ala108Ser
ENST00000677633.1:c.*72G>T	ENSP00000503645.1:n.*72G>T
ENST00000677800.1:c.*3753G>T	ENSP00000503794.1:n.*3753G>T
ENST00000678057.1:c.*213G>T	ENSP00000503762.1:n.*213G>T
ENST00000678119.1:n.843G>T
ENST00000678166.1:n.861-161G>T
ENST00000678312.1:n.986G>T
ENST00000678316.1:c.*72G>T	ENSP00000504112.1:n.*72G>T
ENST00000678371.1:n.1007G>T
ENST00000678404.1:c.649G>T	ENSP00000503944.1:p.Ala217Ser
ENST00000678419.1:c.649G>T	ENSP00000504085.1:p.Ala217Ser
ENST00000678433.1:n.1009G>T
ENST00000678467.1:c.649G>T	ENSP00000504072.1:p.Ala217Ser
ENST00000678569.1:c.649G>T	ENSP00000504261.1:p.Ala217Ser
ENST00000678961.1:n.832G>T
ENST00000679002.1:n.828G>T
ENST00000679012.1:c.205G>T	ENSP00000504446.1:p.Ala69Ser
ENST00000679070.1:c.*72G>T	ENSP00000503759.1:n.*72G>T
ENST00000679130.1:c.649G>T	ENSP00000504845.1:p.Ala217Ser
ENST00000679315.1:c.*479G>T	ENSP00000503065.1:n.*479G>T
ENST00000243583.10:c.526G>T	ENSP00000243583.5:p.Ala176Ser
ENST00000324464.7:c.649G>T	ENSP00000315118.3:p.Ala217Ser
ENST00000595254.5:c.322G>T	ENSP00000470894.1:p.Ala108Ser
ENST00000596455.5:n.769G>T
ENST00000599643.5:c.336-161G>T	ENSP00000471192.1:n.336-161G>T
ENST00000601304.5:c.*423G>T	ENSP00000472519.1:n.*423G>T
ENST00000601967.5:c.649G>T	ENSP00000470916.1:p.Ala217Ser
NM_001142555.2:c.526G>T	NP_001136027.1:p.Ala176Ser
NM_024876.3:c.649G>T	NP_079152.3:p.Ala217Ser
XM_005259270.3:c.811G>T	XP_005259327.2:p.Ala271Ser
XM_005259271.3:c.649G>T	XP_005259328.1:p.Ala217Ser
XM_005259272.3:c.649G>T	XP_005259329.1:p.Ala217Ser
XM_005259273.3:c.649G>T	XP_005259330.1:p.Ala217Ser
XM_006723392.2:c.649G>T	XP_006723455.1:p.Ala217Ser
XM_006723393.2:c.649G>T	XP_006723456.1:p.Ala217Ser
XM_011527334.1:c.649G>T	XP_011525636.1:p.Ala217Ser
XM_011527335.1:c.577-161G>T	XP_011525637.1:n.577-161G>T
XM_011527336.1:c.679G>T	XP_011525638.1:p.Ala227Ser
XM_011527337.1:c.649G>T	XP_011525639.1:p.Ala217Ser
XM_011527338.1:c.649G>T	XP_011525640.1:p.Ala217Ser
NM_024876.4:c.649G>T MANE Select	NP_079152.3:p.Ala217Ser
NM_001142555.3:c.526G>T	NP_001136027.1:p.Ala176Ser