Canonical Allele Identifier: CA1425338

Gene: COQ8A

Linked Data

• dbSNP Id: rs753152068
• ExAC: 1:227171418 C / A
• gnomAD v2: 1-227171418-C-A
• gnomAD v4: 1-226983717-C-A
• MyVariant Identifiers: chr1:g.227171418C>A (hg19) ; chr1:g.226983717C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983717C>A , CM000663.2:g.226983717C>A	GRCh38
NC_000001.10:g.227171418C>A , CM000663.1:g.227171418C>A	GRCh37
NC_000001.9:g.225238041C>A	NCBI36
NG_012825.1:g.48481C>A
NG_012825.2:g.91182C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1163-44C>A MANE Select	ENSP00000355739.3:n.1163-44C>A
ENST00000366779.6:c.*5890-44C>A	ENSP00000355741.2:n.*5890-44C>A
ENST00000676884.1:c.*6012-44C>A	ENSP00000503200.1:n.*6012-44C>A
ENST00000366777.3:c.1163-44C>A	ENSP00000355739.3:n.1163-44C>A
ENST00000366778.5:c.1007-44C>A	ENSP00000355740.1:n.1007-44C>A
ENST00000366779.5:c.1163-44C>A	ENSP00000355741.1:n.1163-44C>A
ENST00000478406.5:n.1742C>A
ENST00000479852.1:n.111-44C>A
ENST00000485462.5:n.553-44C>A
NM_020247.4:c.1163-44C>A	NP_064632.2:n.1163-44C>A
XM_005273201.1:c.1163-44C>A	XP_005273258.1:n.1163-44C>A
XM_011544238.1:c.1163-44C>A	XP_011542540.1:n.1163-44C>A
XM_011544239.1:c.1163-44C>A	XP_011542541.1:n.1163-44C>A
XM_011544240.1:c.1163-44C>A	XP_011542542.1:n.1163-44C>A
XM_011544241.1:c.1163-44C>A	XP_011542543.1:n.1163-44C>A
XM_011544239.2:c.1163-44C>A	XP_011542541.1:n.1163-44C>A
XM_011544241.2:c.1163-44C>A	XP_011542543.1:n.1163-44C>A
XM_017001852.1:c.1163-44C>A	XP_016857341.1:n.1163-44C>A
XM_024448517.1:c.1163-44C>A	XP_024304285.1:n.1163-44C>A
XM_024448518.1:c.1163-44C>A	XP_024304286.1:n.1163-44C>A
NM_020247.5:c.1163-44C>A MANE Select	NP_064632.2:n.1163-44C>A