Canonical Allele Identifier: CA411698469
Gene: TEF HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.41382195C>G
GRCh37 chr22:g.41778199C>G
Revel Score:
ENST00000266304 (MANE Select) 0.089
gnomAD v2:
22:41778199 C / G
gnomAD v3:
22:41382195 C / G
gnomAD v4:
chr22-41382195-C-G
Joint Max Group AF 0.00003009 (NFE)
Genomes Max Group AF 0.00001192 (NFE)
Exomes Max Group AF 0.00002917 (NFE)
ClinVar RCV:
RCV004255390
ClinVar Variation:
2461780
dbSNP:
1322616609
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41382195C>G , CM000684.2:g.41382195C>G GRCh38
NC_000022.10:g.41778199C>G , CM000684.1:g.41778199C>G GRCh37
NC_000022.9:g.40108145C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266304.9:c.151C>G MANE Select ENSP00000266304.4:p.Arg51Gly
ENST00000266304.8:c.151C>G ENSP00000266304.4:p.Arg51Gly
ENST00000406644.7:c.68-5156C>G ENSP00000385256.3:n.68-5156C>G
NM_001145398.2:c.68-5156C>G NP_001138870.1:n.68-5156C>G
NM_003216.3:c.151C>G NP_003207.1:p.Arg51Gly
NM_003216.4:c.151C>G MANE Select NP_003207.1:p.Arg51Gly
NM_001145398.3:c.68-5156C>G NP_001138870.1:n.68-5156C>G
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