ClinVar

NM_000744.7(CHRNA4):c.1066C>T (p.Leu356Phe)

Gene:

CHRNA4:cholinergic receptor nicotinic alpha 4 subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

• Chr20: 63350345 (on Assembly GRCh38)
• Chr20: 61981697 (on Assembly GRCh37)

Preferred name:

NM_000744.7(CHRNA4):c.1066C>T (p.Leu356Phe)

HGVS:

• NC_000020.11:g.63350345G>A
• NG_011931.1:g.15999C>T
• NM_000744.7:c.1066C>TMANE SELECT
• NM_001256573.2:c.538C>T
• NP_000735.1:p.Leu356Phe
• NP_001243502.1:p.Leu180Phe
• NC_000020.10:g.61981697G>A
• NM_000744.5:c.1066C>T
• NR_046317.2:n.1275C>T

This HGVS expression did not pass validation

Protein change:

L180F

Links:

dbSNP: rs121912265

NCBI 1000 Genomes Browser:

rs121912265

Molecular consequence:

• NM_000744.7:c.1066C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256573.2:c.538C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_046317.2:n.1275C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]