Canonical Allele Identifier: CA1225124263

Gene: COQ8A

Linked Data

• dbSNP Id: rs1659941050
• gnomAD v3: 1-226984397-GCTGCCTTCCC-G
• gnomAD v4: 1-226984397-GCTGCCTTCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984398_226984407del , CM000663.2:g.226984398_226984407del	GRCh38
NC_000001.10:g.227172099_227172108del , CM000663.1:g.227172099_227172108del	GRCh37
NC_000001.9:g.225238722_225238731del	NCBI36
NG_012825.1:g.49162_49171del
NG_012825.2:g.91863_91872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1399-150_1399-141del MANE Select	ENSP00000355739.3:n.1399-150_1399-141del
ENST00000366779.6:c.*6126-150_*6126-141del	ENSP00000355741.2:n.*6126-150_*6126-141del
ENST00000366777.3:c.1399-150_1399-141del	ENSP00000355739.3:n.1399-150_1399-141del
ENST00000366778.5:c.1243-150_1243-141del	ENSP00000355740.1:n.1243-150_1243-141del
ENST00000366779.5:c.1399-150_1399-141del	ENSP00000355741.1:n.1399-150_1399-141del
ENST00000478406.5:n.2261-150_2261-141del
ENST00000479852.1:n.586-150_586-141del
ENST00000485462.5:n.789-150_789-141del
NM_020247.4:c.1399-150_1399-141del	NP_064632.2:n.1399-150_1399-141del
XM_005273201.1:c.1399-150_1399-141del	XP_005273258.1:n.1399-150_1399-141del
XM_011544238.1:c.1399-150_1399-141del	XP_011542540.1:n.1399-150_1399-141del
XM_011544239.1:c.1399-150_1399-141del	XP_011542541.1:n.1399-150_1399-141del
XM_011544240.1:c.1399-150_1399-141del	XP_011542542.1:n.1399-150_1399-141del
XM_011544241.1:c.1399-150_1399-141del	XP_011542543.1:n.1399-150_1399-141del
XM_011544239.2:c.1399-150_1399-141del	XP_011542541.1:n.1399-150_1399-141del
XM_011544241.2:c.1399-150_1399-141del	XP_011542543.1:n.1399-150_1399-141del
XM_017001852.1:c.1399-150_1399-141del	XP_016857341.1:n.1399-150_1399-141del
XM_024448517.1:c.1399-150_1399-141del	XP_024304285.1:n.1399-150_1399-141del
XM_024448518.1:c.1399-150_1399-141del	XP_024304286.1:n.1399-150_1399-141del
NM_020247.5:c.1399-150_1399-141del MANE Select	NP_064632.2:n.1399-150_1399-141del