Canonical Allele Identifier: CA529464658

Gene: COQ8A

Linked Data

• dbSNP Id: rs1374173670
• gnomAD v2: 1-227171323-TG-T
• gnomAD v3: 1-226983622-TG-T
• gnomAD v4: 1-226983622-TG-T
• MyVariant Identifiers: chr1:g.227171324del (hg19) ; chr1:g.226983623del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983623del , CM000663.2:g.226983623del	GRCh38
NC_000001.10:g.227171324del , CM000663.1:g.227171324del	GRCh37
NC_000001.9:g.225237947del	NCBI36
NG_012825.1:g.48387del
NG_012825.2:g.91088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1152del MANE Select	ENSP00000355739.3:p.Met384IlefsTer11
ENST00000366779.6:c.*5879del	ENSP00000355741.2:n.*5879del
ENST00000676884.1:c.*6001del	ENSP00000503200.1:n.*6001del
ENST00000366777.3:c.1152del	ENSP00000355739.3:p.Met384IlefsTer11
ENST00000366778.5:c.996del	ENSP00000355740.1:p.Met332IlefsTer11
ENST00000366779.5:c.1152del	ENSP00000355741.1:p.Met384IlefsTer11
ENST00000478406.5:n.1648del
ENST00000479852.1:n.100del
ENST00000485462.5:n.542del
NM_020247.4:c.1152del	NP_064632.2:p.Met384IlefsTer11
XM_005273201.1:c.1152del	XP_005273258.1:p.Met384IlefsTer11
XM_011544238.1:c.1152del	XP_011542540.1:p.Met384IlefsTer11
XM_011544239.1:c.1152del	XP_011542541.1:p.Met384IlefsTer11
XM_011544240.1:c.1152del	XP_011542542.1:p.Met384IlefsTer11
XM_011544241.1:c.1152del	XP_011542543.1:p.Met384IlefsTer11
XM_011544239.2:c.1152del	XP_011542541.1:p.Met384IlefsTer11
XM_011544241.2:c.1152del	XP_011542543.1:p.Met384IlefsTer11
XM_017001852.1:c.1152del	XP_016857341.1:p.Met384IlefsTer11
XM_024448517.1:c.1152del	XP_024304285.1:p.Met384IlefsTer11
XM_024448518.1:c.1152del	XP_024304286.1:p.Met384IlefsTer11
NM_020247.5:c.1152del MANE Select	NP_064632.2:p.Met384IlefsTer11