ClinVar

NM_000238.4(KCNH2):c.140G>T (p.Gly47Val)

Gene:

KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

• Chr7: 150974878 (on Assembly GRCh38)
• Chr7: 150671966 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.140G>T (p.Gly47Val)

HGVS:

• NC_000007.14:g.150974878C>A
• NG_008916.1:g.8049G>T
• NM_000238.4:c.140G>TMANE SELECT
• NM_001406755.1:c.-38G>T
• NM_172056.3:c.140G>T
• NP_000229.1:p.Gly47Val
• NP_000229.1:p.Gly47Val
• NP_742053.1:p.Gly47Val
• NP_742053.1:p.Gly47Val
• LRG_288t1:c.140G>T
• LRG_288t2:c.140G>T
• LRG_288:g.8049G>T
• LRG_288p1:p.Gly47Val
• LRG_288p2:p.Gly47Val
• NC_000007.13:g.150671966C>A
• NM_000238.3:c.140G>T
• NM_172056.2:c.140G>T
• NR_176254.1:n.548G>T
• Q12809:p.Gly47Val

This HGVS expression did not pass validation

Protein change:

G47V

Links:

UniProtKB: Q12809#VAR_009909; dbSNP: rs199473490

NCBI 1000 Genomes Browser:

rs199473490

Molecular consequence:

• NM_000238.4:c.140G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172056.3:c.140G>T - missense variant - [Sequence Ontology: SO:0001583]