ClinVar

NM_001063.4(TF):c.954C>T (p.Ala318=)

Gene:

TF:transferrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q22.1

Genomic location:

• Chr3: 133757852 (on Assembly GRCh38)
• Chr3: 133476696 (on Assembly GRCh37)

Preferred name:

NM_001063.4(TF):c.954C>T (p.Ala318=)

HGVS:

• NC_000003.12:g.133757852C>T
• NG_013080.2:g.100855C>T
• NG_013080.3:g.100856C>T
• NM_001063.4:c.954C>TMANE SELECT
• NM_001354703.2:c.822C>T
• NM_001354704.2:c.573C>T
• NP_001054.2:p.Ala318=
• NP_001341632.2:p.Ala274=
• NP_001341633.2:p.Ala191=
• NC_000003.11:g.133476696C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001063.4:c.954C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354703.2:c.822C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354704.2:c.573C>T - synonymous variant - [Sequence Ontology: SO:0001819]