Canonical Allele Identifier: CA7932973
Gene: COQ7 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.19074000T>C
GRCh37 chr16:g.19085322T>C
Revel Score:
ENST00000321998 (MANE Select) 0.852
ENST00000544894 0.852
gnomAD v2:
16:19085322 T / C
gnomAD v3:
16:19074000 T / C
gnomAD v4:
chr16-19074000-T-C
Joint Max Group AF 0.00001144 (NFE)
Exomes Max Group AF 0.00001214 (NFE)
ClinVar RCV:
RCV003239277
ClinVar Variation:
2507386
dbSNP:
138490803
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.19074000T>C , CM000678.2:g.19074000T>C GRCh38
NC_000016.9:g.19085322T>C , CM000678.1:g.19085322T>C GRCh37
NC_000016.8:g.18992823T>C NCBI36
NG_046596.1:g.11406T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321998.10:c.332T>C MANE Select ENSP00000322316.5:p.Leu111Pro
ENST00000321998.9:c.332T>C ENSP00000322316.5:p.Leu111Pro
ENST00000544894.6:c.218T>C ENSP00000442923.2:p.Leu73Pro
ENST00000561858.5:c.218T>C ENSP00000457256.1:p.Leu73Pro
ENST00000566049.5:c.253-1721T>C ENSP00000456490.1:n.253-1721T>C
ENST00000566110.5:c.218T>C ENSP00000456943.1:p.Leu73Pro
ENST00000568985.5:c.332T>C ENSP00000456734.1:p.Leu111Pro
ENST00000569127.1:c.263T>C ENSP00000455122.1:p.Leu88Pro
ENST00000569312.5:c.332T>C ENSP00000459076.1:p.Leu111Pro
NM_001190983.1:c.218T>C NP_001177912.1:p.Leu73Pro
NM_016138.4:c.332T>C NP_057222.2:p.Leu111Pro
XR_950722.1:n.402T>C
XM_024450140.1:c.290T>C XP_024305908.1:p.Leu97Pro
XM_024450141.1:c.218T>C XP_024305909.1:p.Leu73Pro
XR_950722.3:n.402T>C
NM_016138.5:c.332T>C MANE Select NP_057222.2:p.Leu111Pro
NM_001190983.2:c.218T>C NP_001177912.1:p.Leu73Pro
NM_001370489.1:c.290T>C NP_001357418.1:p.Leu97Pro
NM_001370490.1:c.332T>C NP_001357419.1:p.Leu111Pro
NM_001370491.1:c.290T>C NP_001357420.1:p.Leu97Pro
NM_001370492.1:c.218T>C NP_001357421.1:p.Leu73Pro
NM_001370493.1:c.218T>C NP_001357422.1:p.Leu73Pro
NM_001370494.1:c.218T>C NP_001357423.1:p.Leu73Pro
NM_001370495.1:c.218T>C NP_001357424.1:p.Leu73Pro
NR_163448.1:n.383T>C
NR_163449.1:n.361T>C
NR_163450.1:n.304-1721T>C
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