Canonical Allele Identifier: CA5500030
Gene: NCOA4 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.46027444A>C
GRCh37 chr10:g.51568378T>G
Revel Score:
ENST00000438493 0.014
ENST00000452682 0.014
gnomAD v2:
10:51568378 T / G
gnomAD v3:
10:46027444 A / C
gnomAD v4:
chr10-46027444-A-C
Joint Max Group AF 0.64921401 (SAS)
Genomes Max Group AF 0.64819028 (SAS)
Exomes Max Group AF 0.64824808 (SAS)
dbSNP:
10761581
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.46027444A>C , CM000672.2:g.46027444A>C GRCh38
NC_000010.10:g.51568378T>G , CM000672.1:g.51568378T>G GRCh37
NC_000010.9:g.51238384T>G NCBI36
NG_023372.1:g.8271T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000581486.6:c.-15+3082T>G MANE Select ENSP00000462943.1:n.-15+3082T>G
ENST00000578454.5:c.22T>G ENSP00000463027.1:p.Phe8Val
ENST00000579039.2:c.22T>G ENSP00000463455.1:p.Phe8Val
ENST00000580070.5:c.-128+3082T>G ENSP00000462352.1:n.-128+3082T>G
ENST00000581486.5:c.-15+3082T>G ENSP00000462943.1:n.-15+3082T>G
ENST00000585056.5:c.-71+3082T>G ENSP00000463022.1:n.-71+3082T>G
NM_001145260.1:c.22T>G NP_001138732.1:p.Phe8Val
NM_001145261.1:c.22T>G NP_001138733.1:p.Phe8Val
NM_001145263.1:c.-15+3082T>G NP_001138735.1:n.-15+3082T>G
NM_001145260.2:c.22T>G NP_001138732.1:p.Phe8Val
NM_001145261.2:c.22T>G NP_001138733.1:p.Phe8Val
NM_001145263.2:c.-15+3082T>G MANE Select NP_001138735.1:n.-15+3082T>G
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