ClinVar

NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)

Genes:

CNGA1:cyclic nucleotide gated channel subunit alpha 1 [Gene - OMIM - HGNC]
LOC101927157:uncharacterized LOC101927157 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

4p12

Genomic location:

• Chr4: 47937535 (on Assembly GRCh38)
• Chr4: 47939552 (on Assembly GRCh37)

Preferred name:

NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)

Other names:

S316F

HGVS:

• NC_000004.12:g.47937535G>A
• NG_009193.1:g.80410C>T
• NM_000087.5:c.947C>T
• NM_001142564.2:c.947C>T
• NM_001379270.1:c.947C>TMANE SELECT
• NP_000078.3:p.Ser316Phe
• NP_001136036.1:p.Ser389Phe
• NP_001136036.2:p.Ser316Phe
• NP_001366199.1:p.Ser316Phe
• NC_000004.11:g.47939552G>A
• NM_000087.3:c.959C>T
• NM_000087.4:c.959C>T
• NM_001142564.1:c.1166C>T
• P29973:p.Ser320Phe

This HGVS expression did not pass validation

Protein change:

S389F; SER316PHE

Links:

UniProtKB: P29973#VAR_009297; OMIM: 123825.0003; dbSNP: rs62625014

NCBI 1000 Genomes Browser:

rs62625014

Molecular consequence:

• NM_000087.5:c.947C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142564.2:c.947C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379270.1:c.947C>T - missense variant - [Sequence Ontology: SO:0001583]