Canonical Allele Identifier: CA7932896

Gene: COQ7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.19072017G>C , CM000678.2:g.19072017G>C	GRCh38
NC_000016.9:g.19083339G>C , CM000678.1:g.19083339G>C	GRCh37
NC_000016.8:g.18990840G>C	NCBI36
NG_046596.1:g.9423G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321998.10:c.163G>C MANE Select	ENSP00000322316.5:p.Val55Leu
ENST00000321998.9:c.163G>C	ENSP00000322316.5:p.Val55Leu
ENST00000544894.6:c.49G>C	ENSP00000442923.2:p.Val17Leu
ENST00000561858.5:c.49G>C	ENSP00000457256.1:p.Val17Leu
ENST00000564746.1:n.182G>C
ENST00000566049.5:c.163G>C	ENSP00000456490.1:p.Val55Leu
ENST00000566110.5:c.49G>C	ENSP00000456943.1:p.Val17Leu
ENST00000568985.5:c.163G>C	ENSP00000456734.1:p.Val55Leu
ENST00000569127.1:c.94G>C	ENSP00000455122.1:p.Val32Leu
ENST00000569312.5:c.163G>C	ENSP00000459076.1:p.Val55Leu
NM_001190983.1:c.49G>C	NP_001177912.1:p.Val17Leu
NM_016138.4:c.163G>C	NP_057222.2:p.Val55Leu
XR_950722.1:n.233G>C
XM_024450140.1:c.121G>C	XP_024305908.1:p.Val41Leu
XM_024450141.1:c.49G>C	XP_024305909.1:p.Val17Leu
XR_950722.3:n.233G>C
NM_016138.5:c.163G>C MANE Select	NP_057222.2:p.Val55Leu
NM_001190983.2:c.49G>C	NP_001177912.1:p.Val17Leu
NM_001370489.1:c.121G>C	NP_001357418.1:p.Val41Leu
NM_001370490.1:c.163G>C	NP_001357419.1:p.Val55Leu
NM_001370491.1:c.121G>C	NP_001357420.1:p.Val41Leu
NM_001370492.1:c.49G>C	NP_001357421.1:p.Val17Leu
NM_001370493.1:c.49G>C	NP_001357422.1:p.Val17Leu
NM_001370494.1:c.49G>C	NP_001357423.1:p.Val17Leu
NM_001370495.1:c.49G>C	NP_001357424.1:p.Val17Leu
NR_163448.1:n.214G>C
NR_163449.1:n.192G>C
NR_163450.1:n.214G>C