Canonical Allele Identifier: CA8402566
Gene: COX10 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.14207106C>T
GRCh37 chr17:g.14110423C>T
Revel Score:
ENST00000261643 (MANE Select) 0.634
ENST00000536205 0.634
ENST00000537334 0.634
gnomAD v2:
17:14110423 C / T
gnomAD v3:
17:14207106 C / T
gnomAD v4:
chr17-14207106-C-T
Joint Max Group AF 0.00004428 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00004352 (NFE)
ClinVar RCV:
RCV000479216
RCV004526686
ClinVar Variation:
418144
dbSNP:
368918847
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14207106C>T , CM000679.2:g.14207106C>T GRCh38
NC_000017.10:g.14110423C>T , CM000679.1:g.14110423C>T GRCh37
NC_000017.9:g.14051148C>T NCBI36
NG_008034.1:g.142705C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.1225C>T MANE Select ENSP00000261643.3:p.Arg409Trp
ENST00000664217.1:c.1225C>T ENSP00000499396.1:p.Arg409Trp
ENST00000670279.1:c.929-2403C>T ENSP00000499450.1:n.929-2403C>T
ENST00000261643.7:c.1225C>T ENSP00000261643.3:p.Arg409Trp
ENST00000580561.1:c.*714C>T ENSP00000462190.1:n.*714C>T
ENST00000581931.5:c.*593C>T ENSP00000462512.1:n.*593C>T
NM_001303.3:c.1225C>T NP_001294.2:p.Arg409Trp
XM_011523658.1:c.649C>T XP_011521960.1:p.Arg217Trp
XR_933974.1:n.1032-2403C>T
NM_001303.4:c.1225C>T MANE Select NP_001294.2:p.Arg409Trp
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