Canonical Allele Identifier: CA732363912

Gene: COQ8A

Linked Data

• dbSNP Id: rs1186300672
• gnomAD v3: 1-226982418-AAATTTCTTTTGT-A
• gnomAD v4: 1-226982418-AAATTTCTTTTGT-A
• MyVariant Identifiers: chr1:g.227170120_227170131del (hg19) ; chr1:g.226982419_226982430del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982423_226982434del , CM000663.2:g.226982423_226982434del	GRCh38
NC_000001.10:g.227170124_227170135del , CM000663.1:g.227170124_227170135del	GRCh37
NC_000001.9:g.225236747_225236758del	NCBI36
NG_012825.1:g.47187_47198del
NG_012825.2:g.89888_89899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.854-255_854-244del MANE Select	ENSP00000355739.3:n.854-255_854-244del
ENST00000366779.6:c.*5581-255_*5581-244del	ENSP00000355741.2:n.*5581-255_*5581-244del
ENST00000676884.1:c.*5703-255_*5703-244del	ENSP00000503200.1:n.*5703-255_*5703-244del
ENST00000366777.3:c.854-255_854-244del	ENSP00000355739.3:n.854-255_854-244del
ENST00000366778.5:c.698-255_698-244del	ENSP00000355740.1:n.698-255_698-244del
ENST00000366779.5:c.854-255_854-244del	ENSP00000355741.1:n.854-255_854-244del
ENST00000478406.5:n.578_589del
ENST00000485462.5:n.244-255_244-244del
NM_020247.4:c.854-255_854-244del	NP_064632.2:n.854-255_854-244del
XM_005273201.1:c.854-255_854-244del	XP_005273258.1:n.854-255_854-244del
XM_011544238.1:c.854-255_854-244del	XP_011542540.1:n.854-255_854-244del
XM_011544239.1:c.854-255_854-244del	XP_011542541.1:n.854-255_854-244del
XM_011544240.1:c.854-255_854-244del	XP_011542542.1:n.854-255_854-244del
XM_011544241.1:c.854-255_854-244del	XP_011542543.1:n.854-255_854-244del
XM_011544239.2:c.854-255_854-244del	XP_011542541.1:n.854-255_854-244del
XM_011544241.2:c.854-255_854-244del	XP_011542543.1:n.854-255_854-244del
XM_017001852.1:c.854-255_854-244del	XP_016857341.1:n.854-255_854-244del
XM_024448517.1:c.854-255_854-244del	XP_024304285.1:n.854-255_854-244del
XM_024448518.1:c.854-255_854-244del	XP_024304286.1:n.854-255_854-244del
NM_020247.5:c.854-255_854-244del MANE Select	NP_064632.2:n.854-255_854-244del