Canonical Allele Identifier: CA423528421

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226984920-C-G
• MyVariant Identifiers: chr1:g.227172621C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984920C>G , CM000663.2:g.226984920C>G	GRCh38
NC_000001.10:g.227172621C>G , CM000663.1:g.227172621C>G	GRCh37
NC_000001.9:g.225239244C>G	NCBI36
NG_012825.1:g.49684C>G
NG_012825.2:g.92385C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.1551C>G MANE Select	ENSP00000355739.3:p.Ser517=
ENST00000366779.6:c.*6278C>G	ENSP00000355741.2:n.*6278C>G
ENST00000366777.3:c.1551C>G	ENSP00000355739.3:p.Ser517=
ENST00000366778.5:c.1395C>G	ENSP00000355740.1:p.Ser465=
ENST00000366779.5:c.1551C>G	ENSP00000355741.1:p.Ser517=
ENST00000478406.5:n.2413C>G
ENST00000479852.1:n.738C>G
ENST00000485462.5:n.941C>G
NM_020247.4:c.1551C>G	NP_064632.2:p.Ser517=
XM_005273201.1:c.1551C>G	XP_005273258.1:p.Ser517=
XM_011544238.1:c.1551C>G	XP_011542540.1:p.Ser517=
XM_011544239.1:c.1551C>G	XP_011542541.1:p.Ser517=
XM_011544240.1:c.1551C>G	XP_011542542.1:p.Ser517=
XM_011544241.1:c.1551C>G	XP_011542543.1:p.Ser517=
XM_011544239.2:c.1551C>G	XP_011542541.1:p.Ser517=
XM_011544241.2:c.1551C>G	XP_011542543.1:p.Ser517=
XM_017001852.1:c.1551C>G	XP_016857341.1:p.Ser517=
XM_024448517.1:c.1551C>G	XP_024304285.1:p.Ser517=
XM_024448518.1:c.1551C>G	XP_024304286.1:p.Ser517=
NM_020247.5:c.1551C>G MANE Select	NP_064632.2:p.Ser517=