ClinVar

NM_000218.3(KCNQ1):c.916G>A (p.Gly306Arg)

Gene:

KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 2572981 (on Assembly GRCh38)
• Chr11: 2594211 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.916G>A (p.Gly306Arg)

Other names:

p.G306R:GGG>AGG

HGVS:

• NC_000011.10:g.2572981G>A
• NG_008935.1:g.132991G>A
• NM_000218.3:c.916G>AMANE SELECT
• NM_001406836.1:c.916G>A
• NM_001406837.1:c.646G>A
• NM_181798.2:c.535G>A
• NP_000209.2:p.Gly306Arg
• NP_000209.2:p.Gly306Arg
• NP_001393765.1:p.Gly306Arg
• NP_001393766.1:p.Gly216Arg
• NP_861463.1:p.Gly179Arg
• NP_861463.1:p.Gly179Arg
• LRG_287t1:c.916G>A
• LRG_287t2:c.535G>A
• LRG_287:g.132991G>A
• LRG_287p1:p.Gly306Arg
• LRG_287p2:p.Gly179Arg
• NC_000011.9:g.2594211G>A
• NM_000218.2:c.916G>A
• NM_181798.1:c.535G>A
• NR_040711.2:n.809G>A
• P51787:p.Gly306Arg

This HGVS expression did not pass validation

Protein change:

G179R; GLY306ARG

Links:

UniProtKB: P51787#VAR_001528; OMIM: 607542.0007; dbSNP: rs120074181

NCBI 1000 Genomes Browser:

rs120074181

Molecular consequence:

• NM_000218.3:c.916G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406836.1:c.916G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.646G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.535G>A - missense variant - [Sequence Ontology: SO:0001583]