Canonical Allele Identifier: CA394917024

Gene: COQ7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.19067711G>T , CM000678.2:g.19067711G>T	GRCh38
NC_000016.9:g.19079033G>T , CM000678.1:g.19079033G>T	GRCh37
NC_000016.8:g.18986534G>T	NCBI36
NG_046596.1:g.5117G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321998.10:c.47G>T MANE Select	ENSP00000322316.5:p.Arg16Leu
ENST00000321998.9:c.47G>T	ENSP00000322316.5:p.Arg16Leu
ENST00000564746.1:n.66G>T
ENST00000566049.5:c.47G>T	ENSP00000456490.1:p.Arg16Leu
ENST00000566110.5:c.-212G>T	ENSP00000456943.1:n.-212G>T
ENST00000568985.5:c.47G>T	ENSP00000456734.1:p.Arg16Leu
ENST00000569312.5:c.47G>T	ENSP00000459076.1:p.Arg16Leu
NM_016138.4:c.47G>T	NP_057222.2:p.Arg16Leu
XR_950722.1:n.117G>T
XR_950722.3:n.117G>T
NM_016138.5:c.47G>T MANE Select	NP_057222.2:p.Arg16Leu
NM_001370490.1:c.47G>T	NP_001357419.1:p.Arg16Leu
NR_163448.1:n.98G>T
NR_163450.1:n.98G>T