Canonical Allele Identifier: CA732363713

Gene: COQ8A

Linked Data

• dbSNP Id: rs1240778044
• gnomAD v3: 1-226982155-TGGGCGCGG-T
• gnomAD v4: 1-226982155-TGGGCGCGG-T
• MyVariant Identifiers: chr1:g.227169857_227169864del (hg19) ; chr1:g.226982156_226982163del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982160_226982167del , CM000663.2:g.226982160_226982167del	GRCh38
NC_000001.10:g.227169861_227169868del , CM000663.1:g.227169861_227169868del	GRCh37
NC_000001.9:g.225236484_225236491del	NCBI36
NG_012825.1:g.46924_46931del
NG_012825.2:g.89625_89632del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.853+11_853+18del MANE Select	ENSP00000355739.3:n.853+11_853+18del
ENST00000366779.6:c.*5580+11_*5580+18del	ENSP00000355741.2:n.*5580+11_*5580+18del
ENST00000676884.1:c.*5702+11_*5702+18del	ENSP00000503200.1:n.*5702+11_*5702+18del
ENST00000366777.3:c.853+11_853+18del	ENSP00000355739.3:n.853+11_853+18del
ENST00000366778.5:c.697+11_697+18del	ENSP00000355740.1:n.697+11_697+18del
ENST00000366779.5:c.853+11_853+18del	ENSP00000355741.1:n.853+11_853+18del
ENST00000478406.5:n.315_322del
ENST00000485462.5:n.243+11_243+18del
NM_020247.4:c.853+11_853+18del	NP_064632.2:n.853+11_853+18del
XM_005273201.1:c.853+11_853+18del	XP_005273258.1:n.853+11_853+18del
XM_011544238.1:c.853+11_853+18del	XP_011542540.1:n.853+11_853+18del
XM_011544239.1:c.853+11_853+18del	XP_011542541.1:n.853+11_853+18del
XM_011544240.1:c.853+11_853+18del	XP_011542542.1:n.853+11_853+18del
XM_011544241.1:c.853+11_853+18del	XP_011542543.1:n.853+11_853+18del
XM_011544239.2:c.853+11_853+18del	XP_011542541.1:n.853+11_853+18del
XM_011544241.2:c.853+11_853+18del	XP_011542543.1:n.853+11_853+18del
XM_017001852.1:c.853+11_853+18del	XP_016857341.1:n.853+11_853+18del
XM_024448517.1:c.853+11_853+18del	XP_024304285.1:n.853+11_853+18del
XM_024448518.1:c.853+11_853+18del	XP_024304286.1:n.853+11_853+18del
NM_020247.5:c.853+11_853+18del MANE Select	NP_064632.2:n.853+11_853+18del