Canonical Allele Identifier: CA1012968828

Gene: COQ8A

Linked Data

• dbSNP Id: rs1659950071
• gnomAD v3: 1-226984484-CCA-C
• gnomAD v4: 1-226984484-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984485_226984486del , CM000663.2:g.226984485_226984486del	GRCh38
NC_000001.10:g.227172186_227172187del , CM000663.1:g.227172186_227172187del	GRCh37
NC_000001.9:g.225238809_225238810del	NCBI36
NG_012825.1:g.49249_49250del
NG_012825.2:g.91950_91951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1399-63_1399-62del MANE Select	ENSP00000355739.3:n.1399-63_1399-62del
ENST00000366779.6:c.*6126-63_*6126-62del	ENSP00000355741.2:n.*6126-63_*6126-62del
ENST00000366777.3:c.1399-63_1399-62del	ENSP00000355739.3:n.1399-63_1399-62del
ENST00000366778.5:c.1243-63_1243-62del	ENSP00000355740.1:n.1243-63_1243-62del
ENST00000366779.5:c.1399-63_1399-62del	ENSP00000355741.1:n.1399-63_1399-62del
ENST00000478406.5:n.2261-63_2261-62del
ENST00000479852.1:n.586-63_586-62del
ENST00000485462.5:n.789-63_789-62del
NM_020247.4:c.1399-63_1399-62del	NP_064632.2:n.1399-63_1399-62del
XM_005273201.1:c.1399-63_1399-62del	XP_005273258.1:n.1399-63_1399-62del
XM_011544238.1:c.1399-63_1399-62del	XP_011542540.1:n.1399-63_1399-62del
XM_011544239.1:c.1399-63_1399-62del	XP_011542541.1:n.1399-63_1399-62del
XM_011544240.1:c.1399-63_1399-62del	XP_011542542.1:n.1399-63_1399-62del
XM_011544241.1:c.1399-63_1399-62del	XP_011542543.1:n.1399-63_1399-62del
XM_011544239.2:c.1399-63_1399-62del	XP_011542541.1:n.1399-63_1399-62del
XM_011544241.2:c.1399-63_1399-62del	XP_011542543.1:n.1399-63_1399-62del
XM_017001852.1:c.1399-63_1399-62del	XP_016857341.1:n.1399-63_1399-62del
XM_024448517.1:c.1399-63_1399-62del	XP_024304285.1:n.1399-63_1399-62del
XM_024448518.1:c.1399-63_1399-62del	XP_024304286.1:n.1399-63_1399-62del
NM_020247.5:c.1399-63_1399-62del MANE Select	NP_064632.2:n.1399-63_1399-62del