Canonical Allele Identifier: CA290464
Gene: COX10 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.14206977G>T
GRCh37 chr17:g.14110294G>T
Revel Score:
ENST00000261643 (MANE Select) 0.362
ENST00000536205 0.362
ENST00000537334 0.362
gnomAD v2:
17:14110294 G / T
gnomAD v3:
17:14206977 G / T
gnomAD v4:
chr17-14206977-G-T
Joint Max Group AF 0.0137413 (AFR)
Genomes Max Group AF 0.01405398 (AFR)
Exomes Max Group AF 0.01306083 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14206977G>T , CM000679.2:g.14206977G>T GRCh38
NC_000017.10:g.14110294G>T , CM000679.1:g.14110294G>T GRCh37
NC_000017.9:g.14051019G>T NCBI36
NG_008034.1:g.142576G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.1096G>T MANE Select ENSP00000261643.3:p.Val366Leu
ENST00000664217.1:c.1096G>T ENSP00000499396.1:p.Val366Leu
ENST00000670279.1:c.929-2532G>T ENSP00000499450.1:n.929-2532G>T
ENST00000261643.7:c.1096G>T ENSP00000261643.3:p.Val366Leu
ENST00000580561.1:c.*585G>T ENSP00000462190.1:n.*585G>T
ENST00000581931.5:c.*464G>T ENSP00000462512.1:n.*464G>T
NM_001303.3:c.1096G>T NP_001294.2:p.Val366Leu
XM_011523658.1:c.520G>T XP_011521960.1:p.Val174Leu
XR_933974.1:n.1032-2532G>T
NM_001303.4:c.1096G>T MANE Select NP_001294.2:p.Val366Leu
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