Canonical Allele Identifier: CA1425556

Gene: COQ8A

Linked Data

• dbSNP Id: rs750795441
• ExAC: 1:227172673 ATGTTTTTC / A
• gnomAD v2: 1-227172673-ATGTTTTTC-A
• gnomAD v4: 1-226984972-ATGTTTTTC-A
• MyVariant Identifiers: chr1:g.227172674_227172681del (hg19) ; chr1:g.226984973_226984980del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984975_226984982del , CM000663.2:g.226984975_226984982del	GRCh38
NC_000001.10:g.227172676_227172683del , CM000663.1:g.227172676_227172683del	GRCh37
NC_000001.9:g.225239299_225239306del	NCBI36
NG_012825.1:g.49739_49746del
NG_012825.2:g.92440_92447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1572+34_1572+41del MANE Select	ENSP00000355739.3:n.1572+34_1572+41del
ENST00000366779.6:c.*6299+34_*6299+41del	ENSP00000355741.2:n.*6299+34_*6299+41del
ENST00000366777.3:c.1572+34_1572+41del	ENSP00000355739.3:n.1572+34_1572+41del
ENST00000366778.5:c.1416+34_1416+41del	ENSP00000355740.1:n.1416+34_1416+41del
ENST00000366779.5:c.1572+34_1572+41del	ENSP00000355741.1:n.1572+34_1572+41del
ENST00000478406.5:n.2434+34_2434+41del
ENST00000479852.1:n.759+34_759+41del
ENST00000485462.5:n.962+34_962+41del
NM_020247.4:c.1572+34_1572+41del	NP_064632.2:n.1572+34_1572+41del
XM_005273201.1:c.1572+34_1572+41del	XP_005273258.1:n.1572+34_1572+41del
XM_011544238.1:c.1572+34_1572+41del	XP_011542540.1:n.1572+34_1572+41del
XM_011544239.1:c.1572+34_1572+41del	XP_011542541.1:n.1572+34_1572+41del
XM_011544240.1:c.1572+34_1572+41del	XP_011542542.1:n.1572+34_1572+41del
XM_011544241.1:c.1572+34_1572+41del	XP_011542543.1:n.1572+34_1572+41del
XM_011544239.2:c.1572+34_1572+41del	XP_011542541.1:n.1572+34_1572+41del
XM_011544241.2:c.1572+34_1572+41del	XP_011542543.1:n.1572+34_1572+41del
XM_017001852.1:c.1572+34_1572+41del	XP_016857341.1:n.1572+34_1572+41del
XM_024448517.1:c.1572+34_1572+41del	XP_024304285.1:n.1572+34_1572+41del
XM_024448518.1:c.1572+34_1572+41del	XP_024304286.1:n.1572+34_1572+41del
NM_020247.5:c.1572+34_1572+41del MANE Select	NP_064632.2:n.1572+34_1572+41del