Canonical Allele Identifier: CA1425676

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 872624
• ClinVar RCV Id: RCV001093210
• dbSNP Id: rs61995958
• ExAC: 1:227174299 C / T
• gnomAD v2: 1-227174299-C-T
• gnomAD v3: 1-226986598-C-T
• gnomAD v4: 1-226986598-C-T
• MyVariant Identifiers: chr1:g.227174299C>T (hg19) ; chr1:g.226986598C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226986598C>T , CM000663.2:g.226986598C>T	GRCh38
NC_000001.10:g.227174299C>T , CM000663.1:g.227174299C>T	GRCh37
NC_000001.9:g.225240922C>T	NCBI36
NG_012825.1:g.51362C>T
NG_012825.2:g.94063C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.1805C>T MANE Select	ENSP00000355739.3:p.Pro602Leu
ENST00000366779.6:c.*6532C>T	ENSP00000355741.2:n.*6532C>T
ENST00000366777.3:c.1805C>T	ENSP00000355739.3:p.Pro602Leu
ENST00000366778.5:c.1649C>T	ENSP00000355740.1:p.Pro550Leu
ENST00000366779.5:c.1805C>T	ENSP00000355741.1:p.Pro602Leu
ENST00000478406.5:n.2667C>T
ENST00000479852.1:n.992C>T
ENST00000485462.5:n.1195C>T
NM_020247.4:c.1805C>T	NP_064632.2:p.Pro602Leu
XM_005273201.1:c.1805C>T	XP_005273258.1:p.Pro602Leu
XM_011544238.1:c.1805C>T	XP_011542540.1:p.Pro602Leu
XM_011544239.1:c.1805C>T	XP_011542541.1:p.Pro602Leu
XM_011544240.1:c.1805C>T	XP_011542542.1:p.Pro602Leu
XM_011544241.1:c.1805C>T	XP_011542543.1:p.Pro602Leu
XM_011544239.2:c.1805C>T	XP_011542541.1:p.Pro602Leu
XM_011544241.2:c.1805C>T	XP_011542543.1:p.Pro602Leu
XM_017001852.1:c.1805C>T	XP_016857341.1:p.Pro602Leu
XM_024448517.1:c.1805C>T	XP_024304285.1:p.Pro602Leu
XM_024448518.1:c.1805C>T	XP_024304286.1:p.Pro602Leu
NM_020247.5:c.1805C>T MANE Select	NP_064632.2:p.Pro602Leu