ClinVar

NM_000744.7(CHRNA4):c.876C>T (p.Ile292=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

• Chr20: 63350535 (on Assembly GRCh38)
• Chr20: 61981887 (on Assembly GRCh37)

Preferred name:

NM_000744.7(CHRNA4):c.876C>T (p.Ile292=)

HGVS:

• NC_000020.11:g.63350535G>A
• NG_011931.1:g.15809C>T
• NM_000744.7:c.876C>TMANE SELECT
• NM_001256573.2:c.348C>T
• NP_000735.1:p.Ile292=
• NP_000735.1:p.Ile292=
• NP_001243502.1:p.Ile116=
• NC_000020.10:g.61981887G>A
• NM_000744.5:c.876C>T
• NM_000744.6:c.876C>T
• NR_046317.2:n.1085C>T
• p.Ile292Ile

This HGVS expression did not pass validation

Links:

dbSNP: rs139694653

NCBI 1000 Genomes Browser:

rs139694653

Molecular consequence:

• NR_046317.2:n.1085C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000744.7:c.876C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256573.2:c.348C>T - synonymous variant - [Sequence Ontology: SO:0001819]