Canonical Allele Identifier: CA278728304

Gene: COQ7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.19077918G>A , CM000678.2:g.19077918G>A	GRCh38
NC_000016.9:g.19089240G>A , CM000678.1:g.19089240G>A	GRCh37
NC_000016.8:g.18996741G>A	NCBI36
NG_046596.1:g.15324G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016138.5:c.577-163G>A MANE Select	NP_057222.2:n.577-163G>A
ENST00000321998.10:c.577-163G>A MANE Select	ENSP00000322316.5:n.577-163G>A
NM_001190983.1:c.463-163G>A	NP_001177912.1:n.463-163G>A
NM_001190983.2:c.463-163G>A	NP_001177912.1:n.463-163G>A
NM_001370489.1:c.535-163G>A	NP_001357418.1:n.535-163G>A
NM_001370490.1:c.508-163G>A	NP_001357419.1:n.508-163G>A
NM_001370491.1:c.466-163G>A	NP_001357420.1:n.466-163G>A
NM_001370492.1:c.463-163G>A	NP_001357421.1:n.463-163G>A
NM_001370493.1:c.463-163G>A	NP_001357422.1:n.463-163G>A
NM_001370494.1:c.463-163G>A	NP_001357423.1:n.463-163G>A
NM_001370495.1:c.394-163G>A	NP_001357424.1:n.394-163G>A
NM_016138.4:c.577-163G>A	NP_057222.2:n.577-163G>A
NR_163448.1:n.690-163G>A
NR_163449.1:n.668-163G>A
NR_163450.1:n.513-163G>A
ENST00000321998.9:c.577-163G>A	ENSP00000322316.5:n.577-163G>A
ENST00000544894.6:c.463-163G>A	ENSP00000442923.2:n.463-163G>A
ENST00000566049.5:c.*141-163G>A	ENSP00000456490.1:n.*141-163G>A
ENST00000568985.5:c.577-163G>A	ENSP00000456734.1:n.577-163G>A
ENST00000569127.1:c.508-163G>A	ENSP00000455122.1:n.508-163G>A
ENST00000569312.5:c.*228-163G>A	ENSP00000459076.1:n.*228-163G>A
XM_024450140.1:c.535-163G>A	XP_024305908.1:n.535-163G>A
XM_024450141.1:c.463-163G>A	XP_024305909.1:n.463-163G>A
XR_950722.1:n.647-163G>A
XR_950722.3:n.647-163G>A