ClinVar

NM_000744.7(CHRNA4):c.1054G>A (p.Val352Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

• Chr20: 63350357 (on Assembly GRCh38)
• Chr20: 61981709 (on Assembly GRCh37)

Preferred name:

NM_000744.7(CHRNA4):c.1054G>A (p.Val352Met)

HGVS:

• NC_000020.11:g.63350357C>T
• NG_011931.1:g.15987G>A
• NM_000744.7:c.1054G>AMANE SELECT
• NM_001256573.2:c.526G>A
• NP_000735.1:p.Val352Met
• NP_001243502.1:p.Val176Met
• NC_000020.10:g.61981709C>T
• NM_000744.5:c.1054G>A
• NM_000744.6:c.1054G>A
• NR_046317.2:n.1263G>A

This HGVS expression did not pass validation

Protein change:

V176M

Links:

dbSNP: rs121912264

NCBI 1000 Genomes Browser:

rs121912264

Molecular consequence:

• NM_000744.7:c.1054G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256573.2:c.526G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_046317.2:n.1263G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]