Canonical Allele Identifier: CA507503640

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41206302C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40700397C>A , CM000681.2:g.40700397C>A	GRCh38
NC_000019.9:g.41206302C>A , CM000681.1:g.41206302C>A	GRCh37
NC_000019.8:g.45898142C>A	NCBI36
NG_027800.1:g.21489G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.948G>T MANE Select	ENSP00000315118.3:p.Leu316=
ENST00000593724.2:n.2771G>T
ENST00000594490.6:c.870G>T	ENSP00000471310.2:p.Leu290=
ENST00000594720.6:c.948G>T	ENSP00000470876.2:p.Leu316=
ENST00000596455.6:n.1240G>T
ENST00000601967.6:c.948G>T	ENSP00000470916.2:p.Leu316=
ENST00000676555.1:c.948G>T	ENSP00000503387.1:p.Leu316=
ENST00000676578.1:c.*690G>T	ENSP00000504076.1:n.*690G>T
ENST00000676960.1:n.1073G>T
ENST00000676962.1:n.1227G>T
ENST00000677018.1:c.948G>T	ENSP00000503480.1:p.Leu316=
ENST00000677039.1:n.3151G>T
ENST00000677399.1:n.1390G>T
ENST00000677496.1:c.621G>T	ENSP00000504773.1:p.Leu207=
ENST00000677517.1:c.621G>T	ENSP00000503519.1:p.Leu207=
ENST00000677633.1:c.*371G>T	ENSP00000503645.1:n.*371G>T
ENST00000677800.1:c.*4052G>T	ENSP00000503794.1:n.*4052G>T
ENST00000678057.1:c.*512G>T	ENSP00000503762.1:n.*512G>T
ENST00000678119.1:n.1142G>T
ENST00000678166.1:n.1091G>T
ENST00000678312.1:n.1285G>T
ENST00000678316.1:c.*371G>T	ENSP00000504112.1:n.*371G>T
ENST00000678371.1:n.1398G>T
ENST00000678404.1:c.948G>T	ENSP00000503944.1:p.Leu316=
ENST00000678419.1:c.948G>T	ENSP00000504085.1:p.Leu316=
ENST00000678433.1:n.1304G>T
ENST00000678467.1:c.948G>T	ENSP00000504072.1:p.Leu316=
ENST00000678569.1:c.944G>T	ENSP00000504261.1:p.Cys315Phe
ENST00000678961.1:n.1303G>T
ENST00000679002.1:n.1127G>T
ENST00000679012.1:c.504G>T	ENSP00000504446.1:p.Leu168=
ENST00000679070.1:c.*367G>T	ENSP00000503759.1:n.*367G>T
ENST00000679130.1:c.948G>T	ENSP00000504845.1:p.Leu316=
ENST00000679315.1:c.*778G>T	ENSP00000503065.1:n.*778G>T
ENST00000243583.10:c.825G>T	ENSP00000243583.5:p.Leu275=
ENST00000324464.7:c.948G>T	ENSP00000315118.3:p.Leu316=
ENST00000593724.1:n.1063G>T
NM_001142555.2:c.825G>T	NP_001136027.1:p.Leu275=
NM_024876.3:c.948G>T	NP_079152.3:p.Leu316=
XM_005259270.3:c.1110G>T	XP_005259327.2:p.Leu370=
XM_005259271.3:c.948G>T	XP_005259328.1:p.Leu316=
XM_005259272.3:c.948G>T	XP_005259329.1:p.Leu316=
XM_005259273.3:c.948G>T	XP_005259330.1:p.Leu316=
XM_006723392.2:c.948G>T	XP_006723455.1:p.Leu316=
XM_006723393.2:c.948G>T	XP_006723456.1:p.Leu316=
XM_011527334.1:c.948G>T	XP_011525636.1:p.Leu316=
XM_011527335.1:c.807G>T	XP_011525637.1:p.Leu269=
XM_011527336.1:c.978G>T	XP_011525638.1:p.Leu326=
XM_011527337.1:c.948G>T	XP_011525639.1:p.Leu316=
XM_011527338.1:c.948G>T	XP_011525640.1:p.Leu316=
NM_024876.4:c.948G>T MANE Select	NP_079152.3:p.Leu316=
NM_001142555.3:c.825G>T	NP_001136027.1:p.Leu275=