Canonical Allele Identifier: CA1425221

Gene: COQ8A

Linked Data

• dbSNP Id: rs762415800
• ExAC: 1:227170489 C / T
• gnomAD v2: 1-227170489-C-T
• gnomAD v4: 1-226982788-C-T
• MyVariant Identifiers: chr1:g.227170489C>T (hg19) ; chr1:g.226982788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982788C>T , CM000663.2:g.226982788C>T	GRCh38
NC_000001.10:g.227170489C>T , CM000663.1:g.227170489C>T	GRCh37
NC_000001.9:g.225237112C>T	NCBI36
NG_012825.1:g.47552C>T
NG_012825.2:g.90253C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.939+25C>T MANE Select	ENSP00000355739.3:n.939+25C>T
ENST00000366779.6:c.*5666+25C>T	ENSP00000355741.2:n.*5666+25C>T
ENST00000676884.1:c.*5788+25C>T	ENSP00000503200.1:n.*5788+25C>T
ENST00000366777.3:c.939+25C>T	ENSP00000355739.3:n.939+25C>T
ENST00000366778.5:c.783+25C>T	ENSP00000355740.1:n.783+25C>T
ENST00000366779.5:c.939+25C>T	ENSP00000355741.1:n.939+25C>T
ENST00000478406.5:n.918+25C>T
ENST00000485462.5:n.329+25C>T
NM_020247.4:c.939+25C>T	NP_064632.2:n.939+25C>T
XM_005273201.1:c.939+25C>T	XP_005273258.1:n.939+25C>T
XM_011544238.1:c.939+25C>T	XP_011542540.1:n.939+25C>T
XM_011544239.1:c.939+25C>T	XP_011542541.1:n.939+25C>T
XM_011544240.1:c.939+25C>T	XP_011542542.1:n.939+25C>T
XM_011544241.1:c.939+25C>T	XP_011542543.1:n.939+25C>T
XM_011544239.2:c.939+25C>T	XP_011542541.1:n.939+25C>T
XM_011544241.2:c.939+25C>T	XP_011542543.1:n.939+25C>T
XM_017001852.1:c.939+25C>T	XP_016857341.1:n.939+25C>T
XM_024448517.1:c.939+25C>T	XP_024304285.1:n.939+25C>T
XM_024448518.1:c.939+25C>T	XP_024304286.1:n.939+25C>T
NM_020247.5:c.939+25C>T MANE Select	NP_064632.2:n.939+25C>T