ClinVar

NM_001379270.1(CNGA1):c.1582G>A (p.Val528Ile)

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: 47936900 (on Assembly GRCh38)
• Chr4: 47938917 (on Assembly GRCh37)

Preferred name:

NM_001379270.1(CNGA1):c.1582G>A (p.Val528Ile)

HGVS:

• NC_000004.12:g.47936900C>T
• NG_009193.1:g.81045G>A
• NM_000087.5:c.1582G>A
• NM_001142564.2:c.1582G>A
• NM_001379270.1:c.1582G>AMANE SELECT
• NP_000078.3:p.Val528Ile
• NP_001136036.2:p.Val528Ile
• NP_001366199.1:p.Val528Ile
• NC_000004.11:g.47938917C>T
• NC_000004.11:g.47938917C>T
• NM_000087.3:c.1594G>A

This HGVS expression did not pass validation

Protein change:

V528I

Links:

dbSNP: rs1018800266

NCBI 1000 Genomes Browser:

rs1018800266

Molecular consequence:

• NM_000087.5:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142564.2:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379270.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]