Canonical Allele Identifier: CA7932887
Gene: COQ7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.19071978G>C , CM000678.2:g.19071978G>C GRCh38
NC_000016.9:g.19083300G>C , CM000678.1:g.19083300G>C GRCh37
NC_000016.8:g.18990801G>C NCBI36
NG_046596.1:g.9384G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321998.10:c.124G>C MANE Select ENSP00000322316.5:p.Asp42His
ENST00000321998.9:c.124G>C ENSP00000322316.5:p.Asp42His
ENST00000544894.6:c.10G>C ENSP00000442923.2:p.Asp4His
ENST00000561858.5:c.10G>C ENSP00000457256.1:p.Asp4His
ENST00000564746.1:n.143G>C
ENST00000566049.5:c.124G>C ENSP00000456490.1:p.Asp42His
ENST00000566110.5:c.10G>C ENSP00000456943.1:p.Asp4His
ENST00000568985.5:c.124G>C ENSP00000456734.1:p.Asp42His
ENST00000569127.1:c.55G>C ENSP00000455122.1:p.Asp19His
ENST00000569312.5:c.124G>C ENSP00000459076.1:p.Asp42His
NM_001190983.1:c.10G>C NP_001177912.1:p.Asp4His
NM_016138.4:c.124G>C NP_057222.2:p.Asp42His
XR_950722.1:n.194G>C
XM_024450140.1:c.82G>C XP_024305908.1:p.Asp28His
XM_024450141.1:c.10G>C XP_024305909.1:p.Asp4His
XR_950722.3:n.194G>C
NM_016138.5:c.124G>C MANE Select NP_057222.2:p.Asp42His
NM_001190983.2:c.10G>C NP_001177912.1:p.Asp4His
NM_001370489.1:c.82G>C NP_001357418.1:p.Asp28His
NM_001370490.1:c.124G>C NP_001357419.1:p.Asp42His
NM_001370491.1:c.82G>C NP_001357420.1:p.Asp28His
NM_001370492.1:c.10G>C NP_001357421.1:p.Asp4His
NM_001370493.1:c.10G>C NP_001357422.1:p.Asp4His
NM_001370494.1:c.10G>C NP_001357423.1:p.Asp4His
NM_001370495.1:c.10G>C NP_001357424.1:p.Asp4His
NR_163448.1:n.175G>C
NR_163449.1:n.153G>C
NR_163450.1:n.175G>C