Canonical Allele Identifier: CA7933007

Gene: COQ7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.19075730C>T , CM000678.2:g.19075730C>T	GRCh38
NC_000016.9:g.19087052C>T , CM000678.1:g.19087052C>T	GRCh37
NC_000016.8:g.18994553C>T	NCBI36
NG_046596.1:g.13136C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321998.10:c.377C>T MANE Select	ENSP00000322316.5:p.Thr126Ile
ENST00000321998.9:c.377C>T	ENSP00000322316.5:p.Thr126Ile
ENST00000544894.6:c.263C>T	ENSP00000442923.2:p.Thr88Ile
ENST00000561858.5:c.263C>T	ENSP00000457256.1:p.Thr88Ile
ENST00000566049.5:c.262C>T	ENSP00000456490.1:p.Pro88Ser
ENST00000566110.5:c.263C>T	ENSP00000456943.1:p.Thr88Ile
ENST00000568985.5:c.377C>T	ENSP00000456734.1:p.Thr126Ile
ENST00000569127.1:c.308C>T	ENSP00000455122.1:p.Thr103Ile
ENST00000569312.5:c.*28C>T	ENSP00000459076.1:n.*28C>T
NM_001190983.1:c.263C>T	NP_001177912.1:p.Thr88Ile
NM_016138.4:c.377C>T	NP_057222.2:p.Thr126Ile
XR_950722.1:n.447C>T
XM_024450140.1:c.335C>T	XP_024305908.1:p.Thr112Ile
XM_024450141.1:c.263C>T	XP_024305909.1:p.Thr88Ile
XR_950722.3:n.447C>T
NM_016138.5:c.377C>T MANE Select	NP_057222.2:p.Thr126Ile
NM_001190983.2:c.263C>T	NP_001177912.1:p.Thr88Ile
NM_001370489.1:c.335C>T	NP_001357418.1:p.Thr112Ile
NM_001370490.1:c.377C>T	NP_001357419.1:p.Thr126Ile
NM_001370491.1:c.335C>T	NP_001357420.1:p.Thr112Ile
NM_001370492.1:c.263C>T	NP_001357421.1:p.Thr88Ile
NM_001370493.1:c.263C>T	NP_001357422.1:p.Thr88Ile
NM_001370494.1:c.263C>T	NP_001357423.1:p.Thr88Ile
NM_001370495.1:c.263C>T	NP_001357424.1:p.Thr88Ile
NR_163448.1:n.490C>T
NR_163449.1:n.468C>T
NR_163450.1:n.313C>T