Canonical Allele Identifier: CA411698176
Gene: TEF HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.41382081G>A
GRCh37 chr22:g.41778085G>A
Revel Score:
ENST00000266304 (MANE Select) 0.172
gnomAD v4:
chr22-41382081-G-A
Joint Max Group AF 3.4e-7 (NFE)
Exomes Max Group AF 3.6e-7 (NFE)
ClinVar RCV:
RCV004294962
ClinVar Variation:
2520901
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41382081G>A , CM000684.2:g.41382081G>A GRCh38
NC_000022.10:g.41778085G>A , CM000684.1:g.41778085G>A GRCh37
NC_000022.9:g.40108031G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266304.9:c.37G>A MANE Select ENSP00000266304.4:p.Asp13Asn
ENST00000266304.8:c.37G>A ENSP00000266304.4:p.Asp13Asn
ENST00000406644.7:c.68-5270G>A ENSP00000385256.3:n.68-5270G>A
NM_001145398.2:c.68-5270G>A NP_001138870.1:n.68-5270G>A
NM_003216.3:c.37G>A NP_003207.1:p.Asp13Asn
NM_003216.4:c.37G>A MANE Select NP_003207.1:p.Asp13Asn
NM_001145398.3:c.68-5270G>A NP_001138870.1:n.68-5270G>A
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