Canonical Allele Identifier: CA7933065

Gene: COQ7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.19077343A>G , CM000678.2:g.19077343A>G	GRCh38
NC_000016.9:g.19088665A>G , CM000678.1:g.19088665A>G	GRCh37
NC_000016.8:g.18996166A>G	NCBI36
NG_046596.1:g.14749A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321998.10:c.545A>G MANE Select	ENSP00000322316.5:p.His182Arg
ENST00000321998.9:c.545A>G	ENSP00000322316.5:p.His182Arg
ENST00000544894.6:c.431A>G	ENSP00000442923.2:p.His144Arg
ENST00000566049.5:c.*109A>G	ENSP00000456490.1:n.*109A>G
ENST00000568985.5:c.545A>G	ENSP00000456734.1:p.His182Arg
ENST00000569127.1:c.476A>G	ENSP00000455122.1:p.His159Arg
ENST00000569312.5:c.*196A>G	ENSP00000459076.1:n.*196A>G
NM_001190983.1:c.431A>G	NP_001177912.1:p.His144Arg
NM_016138.4:c.545A>G	NP_057222.2:p.His182Arg
XR_950722.1:n.615A>G
XM_024450140.1:c.503A>G	XP_024305908.1:p.His168Arg
XM_024450141.1:c.431A>G	XP_024305909.1:p.His144Arg
XR_950722.3:n.615A>G
NM_016138.5:c.545A>G MANE Select	NP_057222.2:p.His182Arg
NM_001190983.2:c.431A>G	NP_001177912.1:p.His144Arg
NM_001370489.1:c.503A>G	NP_001357418.1:p.His168Arg
NM_001370490.1:c.508-738A>G	NP_001357419.1:n.508-738A>G
NM_001370491.1:c.466-738A>G	NP_001357420.1:n.466-738A>G
NM_001370492.1:c.431A>G	NP_001357421.1:p.His144Arg
NM_001370493.1:c.431A>G	NP_001357422.1:p.His144Arg
NM_001370494.1:c.431A>G	NP_001357423.1:p.His144Arg
NM_001370495.1:c.394-738A>G	NP_001357424.1:n.394-738A>G
NR_163448.1:n.658A>G
NR_163449.1:n.636A>G
NR_163450.1:n.481A>G