Canonical Allele Identifier: CA38652631

Gene: COQ8A

Linked Data

• dbSNP Id: rs978651625
• MyVariant Identifiers: chr1:g.227172519_227172520del (hg19) ; chr1:g.226984818_226984819del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984823_226984824del , CM000663.2:g.226984823_226984824del	GRCh38
NC_000001.10:g.227172524_227172525del , CM000663.1:g.227172524_227172525del	GRCh37
NC_000001.9:g.225239147_225239148del	NCBI36
NG_012825.1:g.49587_49588del
NG_012825.2:g.92288_92289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1507-53_1507-52del MANE Select	ENSP00000355739.3:n.1507-53_1507-52del
ENST00000366779.6:c.*6234-53_*6234-52del	ENSP00000355741.2:n.*6234-53_*6234-52del
ENST00000366777.3:c.1507-53_1507-52del	ENSP00000355739.3:n.1507-53_1507-52del
ENST00000366778.5:c.1351-53_1351-52del	ENSP00000355740.1:n.1351-53_1351-52del
ENST00000366779.5:c.1507-53_1507-52del	ENSP00000355741.1:n.1507-53_1507-52del
ENST00000478406.5:n.2369-53_2369-52del
ENST00000479852.1:n.694-53_694-52del
ENST00000485462.5:n.897-53_897-52del
NM_020247.4:c.1507-53_1507-52del	NP_064632.2:n.1507-53_1507-52del
XM_005273201.1:c.1507-53_1507-52del	XP_005273258.1:n.1507-53_1507-52del
XM_011544238.1:c.1507-53_1507-52del	XP_011542540.1:n.1507-53_1507-52del
XM_011544239.1:c.1507-53_1507-52del	XP_011542541.1:n.1507-53_1507-52del
XM_011544240.1:c.1507-53_1507-52del	XP_011542542.1:n.1507-53_1507-52del
XM_011544241.1:c.1507-53_1507-52del	XP_011542543.1:n.1507-53_1507-52del
XM_011544239.2:c.1507-53_1507-52del	XP_011542541.1:n.1507-53_1507-52del
XM_011544241.2:c.1507-53_1507-52del	XP_011542543.1:n.1507-53_1507-52del
XM_017001852.1:c.1507-53_1507-52del	XP_016857341.1:n.1507-53_1507-52del
XM_024448517.1:c.1507-53_1507-52del	XP_024304285.1:n.1507-53_1507-52del
XM_024448518.1:c.1507-53_1507-52del	XP_024304286.1:n.1507-53_1507-52del
NM_020247.5:c.1507-53_1507-52del MANE Select	NP_064632.2:n.1507-53_1507-52del