ClinVar

NM_000744.7(CHRNA4):c.510C>T (p.Phe170=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

• Chr20: 63350901 (on Assembly GRCh38)
• Chr20: 61982253 (on Assembly GRCh37)

Preferred name:

NM_000744.7(CHRNA4):c.510C>T (p.Phe170=)

HGVS:

• NC_000020.11:g.63350901G>A
• NG_011931.1:g.15443C>T
• NM_000744.7:c.510C>TMANE SELECT
• NM_001256573.2:c.-19C>T
• NP_000735.1:p.Phe170=
• NP_000735.1:p.Phe170=
• NC_000020.10:g.61982253G>A
• NM_000744.5:c.510C>T
• NM_000744.6:c.510C>T
• NR_046317.2:n.719C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs121912247

NCBI 1000 Genomes Browser:

rs121912247

Molecular consequence:

• NM_001256573.2:c.-19C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_046317.2:n.719C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000744.7:c.510C>T - synonymous variant - [Sequence Ontology: SO:0001819]