ClinVar

NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val)

Gene:

GATA4:GATA binding protein 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 11756974 (on Assembly GRCh38)
• Chr8: 11614483 (on Assembly GRCh37)

Preferred name:

NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val)

HGVS:

• NC_000008.11:g.11756974C>T
• NG_008177.2:g.85056C>T
• NM_001308093.3:c.1040C>TMANE SELECT
• NM_001308094.2:c.419C>T
• NM_001374273.1:c.419C>T
• NM_001374274.1:c.293C>T
• NM_002052.5:c.1037C>T
• NP_001295022.1:p.Ala347Val
• NP_001295023.1:p.Ala140Val
• NP_001361202.1:p.Ala140Val
• NP_001361203.1:p.Ala98Val
• NP_002043.2:p.Ala346Val
• NC_000008.10:g.11614483C>T
• NM_002052.3:c.1037C>T
• NM_002052.4:c.1037C>T
• P43694:p.Ala346Val

This HGVS expression did not pass validation

Protein change:

A140V; ALA346VAL

Links:

UniProtKB: P43694#VAR_067616; OMIM: 600576.0008; dbSNP: rs115372595

NCBI 1000 Genomes Browser:

rs115372595

Molecular consequence:

• NM_001308093.3:c.1040C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308094.2:c.419C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374273.1:c.419C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374274.1:c.293C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002052.5:c.1037C>T - missense variant - [Sequence Ontology: SO:0001583]