ClinVar

NM_001379270.1(CNGA1):c.1619T>G (p.Phe540Cys)

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: 47936863 (on Assembly GRCh38)
• Chr4: 47938880 (on Assembly GRCh37)

Preferred name:

NM_001379270.1(CNGA1):c.1619T>G (p.Phe540Cys)

HGVS:

• NC_000004.12:g.47936863A>C
• NG_009193.1:g.81082T>G
• NM_000087.5:c.1619T>G
• NM_001142564.2:c.1619T>G
• NM_001379270.1:c.1619T>GMANE SELECT
• NP_000078.3:p.Phe540Cys
• NP_001136036.1:p.Phe613Cys
• NP_001136036.2:p.Phe540Cys
• NP_001366199.1:p.Phe540Cys
• NC_000004.11:g.47938880A>C
• NM_001142564.1:c.1838T>G

This HGVS expression did not pass validation

Protein change:

F540C

Links:

dbSNP: rs1578059695

NCBI 1000 Genomes Browser:

rs1578059695

Molecular consequence:

• NM_000087.5:c.1619T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142564.2:c.1619T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379270.1:c.1619T>G - missense variant - [Sequence Ontology: SO:0001583]