Canonical Allele Identifier: CA345054294

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226983825-G-T
• MyVariant Identifiers: chr1:g.227171526G>T (hg19) ; chr1:g.226983825G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983825G>T , CM000663.2:g.226983825G>T	GRCh38
NC_000001.10:g.227171526G>T , CM000663.1:g.227171526G>T	GRCh37
NC_000001.9:g.225238149G>T	NCBI36
NG_012825.1:g.48589G>T
NG_012825.2:g.91290G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1227G>T MANE Select	ENSP00000355739.3:p.Gln409His
ENST00000366779.6:c.*5954G>T	ENSP00000355741.2:n.*5954G>T
ENST00000676884.1:c.*6076G>T	ENSP00000503200.1:n.*6076G>T
ENST00000366777.3:c.1227G>T	ENSP00000355739.3:p.Gln409His
ENST00000366778.5:c.1071G>T	ENSP00000355740.1:p.Gln357His
ENST00000366779.5:c.1227G>T	ENSP00000355741.1:p.Gln409His
ENST00000478406.5:n.1850G>T
ENST00000479852.1:n.175G>T
ENST00000485462.5:n.617G>T
NM_020247.4:c.1227G>T	NP_064632.2:p.Gln409His
XM_005273201.1:c.1227G>T	XP_005273258.1:p.Gln409His
XM_011544238.1:c.1227G>T	XP_011542540.1:p.Gln409His
XM_011544239.1:c.1227G>T	XP_011542541.1:p.Gln409His
XM_011544240.1:c.1227G>T	XP_011542542.1:p.Gln409His
XM_011544241.1:c.1227G>T	XP_011542543.1:p.Gln409His
XM_011544239.2:c.1227G>T	XP_011542541.1:p.Gln409His
XM_011544241.2:c.1227G>T	XP_011542543.1:p.Gln409His
XM_017001852.1:c.1227G>T	XP_016857341.1:p.Gln409His
XM_024448517.1:c.1227G>T	XP_024304285.1:p.Gln409His
XM_024448518.1:c.1227G>T	XP_024304286.1:p.Gln409His
NM_020247.5:c.1227G>T MANE Select	NP_064632.2:p.Gln409His