Canonical Allele Identifier: CA411698275
Gene: TEF HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.41382108C>A
GRCh37 chr22:g.41778112C>A
Revel Score:
ENST00000266304 (MANE Select) 0.103
gnomAD v2:
22:41778112 C / A
gnomAD v3:
22:41382108 C / A
gnomAD v4:
chr22-41382108-C-A
Joint Max Group AF 0.00001045 (EAS)
Genomes Max Group AF 0.00006867 (EAS)
ClinVar RCV:
RCV004325545
ClinVar Variation:
2558714
dbSNP:
780487259
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41382108C>A , CM000684.2:g.41382108C>A GRCh38
NC_000022.10:g.41778112C>A , CM000684.1:g.41778112C>A GRCh37
NC_000022.9:g.40108058C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266304.9:c.64C>A MANE Select ENSP00000266304.4:p.Pro22Thr
ENST00000266304.8:c.64C>A ENSP00000266304.4:p.Pro22Thr
ENST00000406644.7:c.68-5243C>A ENSP00000385256.3:n.68-5243C>A
NM_001145398.2:c.68-5243C>A NP_001138870.1:n.68-5243C>A
NM_003216.3:c.64C>A NP_003207.1:p.Pro22Thr
NM_003216.4:c.64C>A MANE Select NP_003207.1:p.Pro22Thr
NM_001145398.3:c.68-5243C>A NP_001138870.1:n.68-5243C>A
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