Canonical Allele Identifier: CA7932817

Gene: COQ7 COQ7-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.19067667G>T , CM000678.2:g.19067667G>T	GRCh38
NC_000016.9:g.19078989G>T , CM000678.1:g.19078989G>T	GRCh37
NC_000016.8:g.18986490G>T	NCBI36
NG_046596.1:g.5073G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321998.10:c.3G>T (COQ7) MANE Select	ENSP00000322316.5:p.Met1Ile
ENST00000321998.9:c.3G>T (COQ7)	ENSP00000322316.5:p.Met1Ile
ENST00000564746.1:n.22G>T (COQ7)
ENST00000566049.5:c.3G>T (COQ7)	ENSP00000456490.1:p.Met1Ile
ENST00000566110.5:c.-256G>T (COQ7)	ENSP00000456943.1:n.-256G>T
ENST00000568985.5:c.3G>T (COQ7)	ENSP00000456734.1:p.Met1Ile
ENST00000569312.5:c.3G>T (COQ7)	ENSP00000459076.1:p.Met1Ile
NM_016138.4:c.3G>T (COQ7)	NP_057222.2:p.Met1Ile
NR_119379.1:n.25C>A (COQ7-DT)
NR_119380.1:n.25C>A (COQ7-DT)
NR_119381.1:n.25C>A (COQ7-DT)
XR_950722.1:n.73G>T (COQ7)
XR_950722.3:n.73G>T (COQ7)
NM_016138.5:c.3G>T (COQ7) MANE Select	NP_057222.2:p.Met1Ile
NM_001370490.1:c.3G>T (COQ7)	NP_001357419.1:p.Met1Ile
NR_163448.1:n.54G>T (COQ7)
NR_163450.1:n.54G>T (COQ7)