Canonical Allele Identifier: CA1425545

Gene: COQ8A

Linked Data

• dbSNP Id: rs753540485
• ExAC: 1:227172643 G / GT
• gnomAD v2: 1-227172643-G-GT
• gnomAD v4: 1-226984942-G-GT
• MyVariant Identifiers: chr1:g.227172643_227172644insT (hg19) ; chr1:g.226984942_226984943insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984943dup , CM000663.2:g.226984943dup	GRCh38
NC_000001.10:g.227172644dup , CM000663.1:g.227172644dup	GRCh37
NC_000001.9:g.225239267dup	NCBI36
NG_012825.1:g.49707dup
NG_012825.2:g.92408dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1572+2dup MANE Select	ENSP00000355739.3:n.1572+2dup
ENST00000366779.6:c.*6299+2dup	ENSP00000355741.2:n.*6299+2dup
ENST00000366777.3:c.1572+2dup	ENSP00000355739.3:n.1572+2dup
ENST00000366778.5:c.1416+2dup	ENSP00000355740.1:n.1416+2dup
ENST00000366779.5:c.1572+2dup	ENSP00000355741.1:n.1572+2dup
ENST00000478406.5:n.2434+2dup
ENST00000479852.1:n.759+2dup
ENST00000485462.5:n.962+2dup
NM_020247.4:c.1572+2dup	NP_064632.2:n.1572+2dup
XM_005273201.1:c.1572+2dup	XP_005273258.1:n.1572+2dup
XM_011544238.1:c.1572+2dup	XP_011542540.1:n.1572+2dup
XM_011544239.1:c.1572+2dup	XP_011542541.1:n.1572+2dup
XM_011544240.1:c.1572+2dup	XP_011542542.1:n.1572+2dup
XM_011544241.1:c.1572+2dup	XP_011542543.1:n.1572+2dup
XM_011544239.2:c.1572+2dup	XP_011542541.1:n.1572+2dup
XM_011544241.2:c.1572+2dup	XP_011542543.1:n.1572+2dup
XM_017001852.1:c.1572+2dup	XP_016857341.1:n.1572+2dup
XM_024448517.1:c.1572+2dup	XP_024304285.1:n.1572+2dup
XM_024448518.1:c.1572+2dup	XP_024304286.1:n.1572+2dup
NM_020247.5:c.1572+2dup MANE Select	NP_064632.2:n.1572+2dup