Canonical Allele Identifier: CA10256728
Gene: TEF HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.41382129A>G
GRCh37 chr22:g.41778133A>G
Revel Score:
ENST00000266304 (MANE Select) 0.070
gnomAD v2:
22:41778133 A / G
gnomAD v4:
chr22-41382129-A-G
Joint Max Group AF 0.00001043 (EAS)
Exomes Max Group AF 0.00001239 (EAS)
ClinVar RCV:
RCV004299384
ClinVar Variation:
2530022
dbSNP:
748518557
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41382129A>G , CM000684.2:g.41382129A>G GRCh38
NC_000022.10:g.41778133A>G , CM000684.1:g.41778133A>G GRCh37
NC_000022.9:g.40108079A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266304.9:c.85A>G MANE Select ENSP00000266304.4:p.Arg29Gly
ENST00000266304.8:c.85A>G ENSP00000266304.4:p.Arg29Gly
ENST00000406644.7:c.68-5222A>G ENSP00000385256.3:n.68-5222A>G
NM_001145398.2:c.68-5222A>G NP_001138870.1:n.68-5222A>G
NM_003216.3:c.85A>G NP_003207.1:p.Arg29Gly
NM_003216.4:c.85A>G MANE Select NP_003207.1:p.Arg29Gly
NM_001145398.3:c.68-5222A>G NP_001138870.1:n.68-5222A>G
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