Canonical Allele Identifier: CA308434514

Gene: COQ8B

Linked Data

• dbSNP Id: rs904219914
• gnomAD v2: 19-41197729-C-G
• gnomAD v3: 19-40691824-C-G
• gnomAD v4: 19-40691824-C-G
• MyVariant Identifiers: chr19:g.41197729C>G (hg19) ; chr19:g.40691824C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40691824C>G , CM000681.2:g.40691824C>G	GRCh38
NC_000019.9:g.41197729C>G , CM000681.1:g.41197729C>G	GRCh37
NC_000019.8:g.45889569C>G	NCBI36
NG_027800.1:g.30062G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.*211G>C MANE Select	ENSP00000315118.3:n.*211G>C
ENST00000593724.2:n.3669G>C
ENST00000594490.6:c.*211G>C	ENSP00000471310.2:n.*211G>C
ENST00000594720.6:c.*211G>C	ENSP00000470876.2:n.*211G>C
ENST00000596455.6:n.2138G>C
ENST00000601967.6:c.*211G>C	ENSP00000470916.2:n.*211G>C
ENST00000676555.1:c.*1271G>C	ENSP00000503387.1:n.*1271G>C
ENST00000676578.1:c.*1588G>C	ENSP00000504076.1:n.*1588G>C
ENST00000676960.1:n.1971G>C
ENST00000676962.1:n.2125G>C
ENST00000677018.1:c.*211G>C	ENSP00000503480.1:n.*211G>C
ENST00000677039.1:n.4049G>C
ENST00000677399.1:n.2288G>C
ENST00000677496.1:c.*211G>C	ENSP00000504773.1:n.*211G>C
ENST00000677517.1:c.*211G>C	ENSP00000503519.1:n.*211G>C
ENST00000677633.1:c.*1269G>C	ENSP00000503645.1:n.*1269G>C
ENST00000677800.1:c.*4950G>C	ENSP00000503794.1:n.*4950G>C
ENST00000678057.1:c.*1410G>C	ENSP00000503762.1:n.*1410G>C
ENST00000678119.1:n.2040G>C
ENST00000678166.1:n.1989G>C
ENST00000678312.1:n.2183G>C
ENST00000678316.1:c.*1269G>C	ENSP00000504112.1:n.*1269G>C
ENST00000678371.1:n.2296G>C
ENST00000678404.1:c.*211G>C	ENSP00000503944.1:n.*211G>C
ENST00000678419.1:c.*211G>C	ENSP00000504085.1:n.*211G>C
ENST00000678433.1:n.2202G>C
ENST00000678467.1:c.*211G>C	ENSP00000504072.1:n.*211G>C
ENST00000678569.1:c.*831G>C	ENSP00000504261.1:n.*831G>C
ENST00000678961.1:n.2201G>C
ENST00000679002.1:n.2025G>C
ENST00000679012.1:c.*211G>C	ENSP00000504446.1:n.*211G>C
ENST00000679070.1:c.*1265G>C	ENSP00000503759.1:n.*1265G>C
ENST00000679130.1:c.*211G>C	ENSP00000504845.1:n.*211G>C
ENST00000679315.1:c.*1676G>C	ENSP00000503065.1:n.*1676G>C
ENST00000243583.10:c.*211G>C	ENSP00000243583.5:n.*211G>C
ENST00000324464.7:c.*211G>C	ENSP00000315118.3:n.*211G>C
ENST00000593724.1:n.1961G>C
NM_001142555.2:c.*211G>C	NP_001136027.1:n.*211G>C
NM_024876.3:c.*211G>C	NP_079152.3:n.*211G>C
XM_005259270.3:c.*211G>C	XP_005259327.2:n.*211G>C
XM_005259271.3:c.*211G>C	XP_005259328.1:n.*211G>C
XM_005259272.3:c.*211G>C	XP_005259329.1:n.*211G>C
XM_005259273.3:c.*211G>C	XP_005259330.1:n.*211G>C
XM_006723392.2:c.*211G>C	XP_006723455.1:n.*211G>C
XM_006723393.2:c.*211G>C	XP_006723456.1:n.*211G>C
XM_011527334.1:c.*211G>C	XP_011525636.1:n.*211G>C
XM_011527335.1:c.*211G>C	XP_011525637.1:n.*211G>C
XM_011527336.1:c.*211G>C	XP_011525638.1:n.*211G>C
XM_011527337.1:c.*211G>C	XP_011525639.1:n.*211G>C
XM_011527338.1:c.*211G>C	XP_011525640.1:n.*211G>C
NM_024876.4:c.*211G>C MANE Select	NP_079152.3:n.*211G>C
NM_001142555.3:c.*211G>C	NP_001136027.1:n.*211G>C