Canonical Allele Identifier: CA2576788717

Gene: COQ8B

Linked Data

• gnomAD v4: 19-40700298-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40700298C>T , CM000681.2:g.40700298C>T	GRCh38
NC_000019.9:g.41206203C>T , CM000681.1:g.41206203C>T	GRCh37
NC_000019.8:g.45898043C>T	NCBI36
NG_027800.1:g.21588G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1035+12G>A MANE Select	ENSP00000315118.3:n.1035+12G>A
ENST00000593724.2:n.2858+12G>A
ENST00000594490.6:c.957+12G>A	ENSP00000471310.2:n.957+12G>A
ENST00000594720.6:c.1035+12G>A	ENSP00000470876.2:n.1035+12G>A
ENST00000596455.6:n.1327+12G>A
ENST00000601967.6:c.1035+12G>A	ENSP00000470916.2:n.1035+12G>A
ENST00000676555.1:c.1035+12G>A	ENSP00000503387.1:n.1035+12G>A
ENST00000676578.1:c.*777+12G>A	ENSP00000504076.1:n.*777+12G>A
ENST00000676960.1:n.1160+12G>A
ENST00000676962.1:n.1314+12G>A
ENST00000677018.1:c.1035+12G>A	ENSP00000503480.1:n.1035+12G>A
ENST00000677039.1:n.3238+12G>A
ENST00000677399.1:n.1477+12G>A
ENST00000677496.1:c.708+12G>A	ENSP00000504773.1:n.708+12G>A
ENST00000677517.1:c.708+12G>A	ENSP00000503519.1:n.708+12G>A
ENST00000677633.1:c.*458+12G>A	ENSP00000503645.1:n.*458+12G>A
ENST00000677800.1:c.*4139+12G>A	ENSP00000503794.1:n.*4139+12G>A
ENST00000678057.1:c.*599+12G>A	ENSP00000503762.1:n.*599+12G>A
ENST00000678119.1:n.1229+12G>A
ENST00000678166.1:n.1178+12G>A
ENST00000678312.1:n.1372+12G>A
ENST00000678316.1:c.*458+12G>A	ENSP00000504112.1:n.*458+12G>A
ENST00000678371.1:n.1485+12G>A
ENST00000678404.1:c.1035+12G>A	ENSP00000503944.1:n.1035+12G>A
ENST00000678419.1:c.1035+12G>A	ENSP00000504085.1:n.1035+12G>A
ENST00000678433.1:n.1391+12G>A
ENST00000678467.1:c.1035+12G>A	ENSP00000504072.1:n.1035+12G>A
ENST00000678569.1:c.*20+12G>A	ENSP00000504261.1:n.*20+12G>A
ENST00000678961.1:n.1390+12G>A
ENST00000679002.1:n.1214+12G>A
ENST00000679012.1:c.591+12G>A	ENSP00000504446.1:n.591+12G>A
ENST00000679070.1:c.*454+12G>A	ENSP00000503759.1:n.*454+12G>A
ENST00000679130.1:c.1035+12G>A	ENSP00000504845.1:n.1035+12G>A
ENST00000679315.1:c.*865+12G>A	ENSP00000503065.1:n.*865+12G>A
ENST00000243583.10:c.912+12G>A	ENSP00000243583.5:n.912+12G>A
ENST00000324464.7:c.1035+12G>A	ENSP00000315118.3:n.1035+12G>A
ENST00000593724.1:n.1150+12G>A
NM_001142555.2:c.912+12G>A	NP_001136027.1:n.912+12G>A
NM_024876.3:c.1035+12G>A	NP_079152.3:n.1035+12G>A
XM_005259270.3:c.1197+12G>A	XP_005259327.2:n.1197+12G>A
XM_005259271.3:c.1035+12G>A	XP_005259328.1:n.1035+12G>A
XM_005259272.3:c.1035+12G>A	XP_005259329.1:n.1035+12G>A
XM_005259273.3:c.1035+12G>A	XP_005259330.1:n.1035+12G>A
XM_006723392.2:c.1035+12G>A	XP_006723455.1:n.1035+12G>A
XM_006723393.2:c.1035+12G>A	XP_006723456.1:n.1035+12G>A
XM_011527334.1:c.1035+12G>A	XP_011525636.1:n.1035+12G>A
XM_011527335.1:c.894+12G>A	XP_011525637.1:n.894+12G>A
XM_011527336.1:c.1065+12G>A	XP_011525638.1:n.1065+12G>A
XM_011527337.1:c.1035+12G>A	XP_011525639.1:n.1035+12G>A
XM_011527338.1:c.1035+12G>A	XP_011525640.1:n.1035+12G>A
NM_024876.4:c.1035+12G>A MANE Select	NP_079152.3:n.1035+12G>A
NM_001142555.3:c.912+12G>A	NP_001136027.1:n.912+12G>A