ClinVar

NM_000743.5(CHRNA3):c.459C>T (p.Ala153=)

Gene:

CHRNA3:cholinergic receptor nicotinic alpha 3 subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q25.1

Genomic location:

• Chr15: 78602183 (on Assembly GRCh38)
• Chr15: 78894525 (on Assembly GRCh37)

Preferred name:

NM_000743.5(CHRNA3):c.459C>T (p.Ala153=)

HGVS:

• NC_000015.10:g.78602183G>A
• NG_016143.1:g.24113C>T
• NM_000743.5:c.459C>TMANE SELECT
• NM_001166694.2:c.459C>T
• NP_000734.2:p.Ala153=
• NP_001160166.1:p.Ala153=
• NC_000015.9:g.78894525G>A
• NC_000015.9:g.78894525G>A
• NM_000743.4:c.459C>T
• NR_046313.2:n.661C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs202207061

NCBI 1000 Genomes Browser:

rs202207061

Molecular consequence:

• NR_046313.2:n.661C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000743.5:c.459C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001166694.2:c.459C>T - synonymous variant - [Sequence Ontology: SO:0001819]