ClinVar

NM_000744.7(CHRNA4):c.852G>A (p.Ser284=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

• Chr20: 63350559 (on Assembly GRCh38)
• Chr20: 61981911 (on Assembly GRCh37)

Preferred name:

NM_000744.7(CHRNA4):c.852G>A (p.Ser284=)

HGVS:

• NC_000020.11:g.63350559C>T
• NG_011931.1:g.15785G>A
• NM_000744.7:c.852G>AMANE SELECT
• NM_001256573.2:c.324G>A
• NP_000735.1:p.Ser284=
• NP_001243502.1:p.Ser108=
• NC_000020.10:g.61981911C>T
• NM_000744.5:c.852G>A
• NR_046317.2:n.1061G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs199741056

NCBI 1000 Genomes Browser:

rs199741056

Molecular consequence:

• NR_046317.2:n.1061G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000744.7:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256573.2:c.324G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1