Canonical Allele Identifier: CA411698144
Gene: TEF HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.41382072C>T
GRCh37 chr22:g.41778076C>T
Revel Score:
ENST00000266304 (MANE Select) 0.085
gnomAD v3:
22:41382072 C / T
gnomAD v4:
chr22-41382072-C-T
Joint Max Group AF 0.00025971 (AMR)
Genomes Max Group AF 0.00030692 (AMR)
Exomes Max Group AF 0.00004219 (AMR)
ClinVar RCV:
RCV004469522
ClinVar Variation:
3175713
dbSNP:
1194864641
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41382072C>T , CM000684.2:g.41382072C>T GRCh38
NC_000022.10:g.41778076C>T , CM000684.1:g.41778076C>T GRCh37
NC_000022.9:g.40108022C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266304.9:c.28C>T MANE Select ENSP00000266304.4:p.Pro10Ser
ENST00000266304.8:c.28C>T ENSP00000266304.4:p.Pro10Ser
ENST00000406644.7:c.68-5279C>T ENSP00000385256.3:n.68-5279C>T
NM_001145398.2:c.68-5279C>T NP_001138870.1:n.68-5279C>T
NM_003216.3:c.28C>T NP_003207.1:p.Pro10Ser
NM_003216.4:c.28C>T MANE Select NP_003207.1:p.Pro10Ser
NM_001145398.3:c.68-5279C>T NP_001138870.1:n.68-5279C>T
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