ClinVar

NM_001063.4(TF):c.828C>T (p.Gly276=)

Gene:

TF:transferrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q22.1

Genomic location:

• Chr3: 133756967 (on Assembly GRCh38)
• Chr3: 133475811 (on Assembly GRCh37)

Preferred name:

NM_001063.4(TF):c.828C>T (p.Gly276=)

HGVS:

• NC_000003.12:g.133756967C>T
• NG_013080.2:g.99970C>T
• NM_001063.4:c.828C>TMANE SELECT
• NM_001354703.2:c.696C>T
• NM_001354704.2:c.447C>T
• NP_001054.2:p.Gly276=
• NP_001341632.2:p.Gly232=
• NP_001341633.2:p.Gly149=
• NC_000003.11:g.133475811C>T
• NC_000003.11:g.133475811C>T
• NM_001063.3:c.828C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs769998552

NCBI 1000 Genomes Browser:

rs769998552

Molecular consequence:

• NM_001063.4:c.828C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354703.2:c.696C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354704.2:c.447C>T - synonymous variant - [Sequence Ontology: SO:0001819]