Canonical Allele Identifier: CA10256896
Gene: TEF HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.41395944A>C
GRCh37 chr22:g.41791948A>C
Revel Score:
ENST00000406644 0.171
ENST00000433913 0.171
ENST00000266304 (MANE Select) 0.171
gnomAD v2:
22:41791948 A / C
gnomAD v3:
22:41395944 A / C
gnomAD v4:
chr22-41395944-A-C
Joint Max Group AF 0.00006046 (NFE)
Genomes Max Group AF 0.00001973 (NFE)
Exomes Max Group AF 0.00006065 (NFE)
ClinVar RCV:
RCV004290102
ClinVar Variation:
2519144
dbSNP:
149015380
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41395944A>C , CM000684.2:g.41395944A>C GRCh38
NC_000022.10:g.41791948A>C , CM000684.1:g.41791948A>C GRCh37
NC_000022.9:g.40121894A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266304.9:c.896A>C MANE Select ENSP00000266304.4:p.Lys299Thr
ENST00000266304.8:c.896A>C ENSP00000266304.4:p.Lys299Thr
ENST00000406644.7:c.806A>C ENSP00000385256.3:p.Lys269Thr
NM_001145398.2:c.806A>C NP_001138870.1:p.Lys269Thr
NM_003216.3:c.896A>C NP_003207.1:p.Lys299Thr
NM_003216.4:c.896A>C MANE Select NP_003207.1:p.Lys299Thr
NM_001145398.3:c.806A>C NP_001138870.1:p.Lys269Thr
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