Canonical Allele Identifier: CA529184828

Gene: COQ8A

Linked Data

• dbSNP Id: rs1226904823
• gnomAD v2: 1-227170682-CAGGTGCACTT-C
• MyVariant Identifiers: chr1:g.227170683_227170692del (hg19) ; chr1:g.226982982_226982991del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982982_226982991del , CM000663.2:g.226982982_226982991del	GRCh38
NC_000001.10:g.227170683_227170692del , CM000663.1:g.227170683_227170692del	GRCh37
NC_000001.9:g.225237306_225237315del	NCBI36
NG_012825.1:g.47746_47755del
NG_012825.2:g.90447_90456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1028_1037del MANE Select	ENSP00000355739.3:p.Gln343ArgfsTer4
ENST00000366779.6:c.*5755_*5764del	ENSP00000355741.2:n.*5755_*5764del
ENST00000676884.1:c.*5877_*5886del	ENSP00000503200.1:n.*5877_*5886del
ENST00000366777.3:c.1028_1037del	ENSP00000355739.3:p.Gln343ArgfsTer4
ENST00000366778.5:c.872_881del	ENSP00000355740.1:p.Gln291ArgfsTer4
ENST00000366779.5:c.1028_1037del	ENSP00000355741.1:p.Gln343ArgfsTer4
ENST00000478406.5:n.1007_1016del
ENST00000485462.5:n.418_427del
NM_020247.4:c.1028_1037del	NP_064632.2:p.Gln343ArgfsTer4
XM_005273201.1:c.1028_1037del	XP_005273258.1:p.Gln343ArgfsTer4
XM_011544238.1:c.1028_1037del	XP_011542540.1:p.Gln343ArgfsTer4
XM_011544239.1:c.1028_1037del	XP_011542541.1:p.Gln343ArgfsTer4
XM_011544240.1:c.1028_1037del	XP_011542542.1:p.Gln343ArgfsTer4
XM_011544241.1:c.1028_1037del	XP_011542543.1:p.Gln343ArgfsTer4
XM_011544239.2:c.1028_1037del	XP_011542541.1:p.Gln343ArgfsTer4
XM_011544241.2:c.1028_1037del	XP_011542543.1:p.Gln343ArgfsTer4
XM_017001852.1:c.1028_1037del	XP_016857341.1:p.Gln343ArgfsTer4
XM_024448517.1:c.1028_1037del	XP_024304285.1:p.Gln343ArgfsTer4
XM_024448518.1:c.1028_1037del	XP_024304286.1:p.Gln343ArgfsTer4
NM_020247.5:c.1028_1037del MANE Select	NP_064632.2:p.Gln343ArgfsTer4