ClinVar

NM_000218.3(KCNQ1):c.947G>T (p.Gly316Val)

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: 2583460 (on Assembly GRCh38)
• Chr11: 2604690 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.947G>T (p.Gly316Val)

HGVS:

• NC_000011.10:g.2583460G>T
• NG_008935.1:g.143470G>T
• NM_000218.3:c.947G>TMANE SELECT
• NM_001406836.1:c.947G>T
• NM_001406837.1:c.677G>T
• NM_001406838.1:c.503G>T
• NM_181798.2:c.566G>T
• NP_000209.2:p.Gly316Val
• NP_000209.2:p.Gly316Val
• NP_001393765.1:p.Gly316Val
• NP_001393766.1:p.Gly226Val
• NP_001393767.1:p.Gly168Val
• NP_861463.1:p.Gly189Val
• NP_861463.1:p.Gly189Val
• LRG_287t1:c.947G>T
• LRG_287t2:c.566G>T
• LRG_287:g.143470G>T
• LRG_287p1:p.Gly316Val
• LRG_287p2:p.Gly189Val
• NC_000011.9:g.2604690G>T
• NM_000218.2:c.947G>T
• NM_181798.1:c.566G>T
• NR_040711.2:n.840G>T
• P51787:p.Gly316Val

This HGVS expression did not pass validation

Protein change:

G168V

Links:

UniProtKB: P51787#VAR_074982; dbSNP: rs199472749

NCBI 1000 Genomes Browser:

rs199472749

Molecular consequence:

• NM_000218.3:c.947G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406836.1:c.947G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.677G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406838.1:c.503G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.566G>T - missense variant - [Sequence Ontology: SO:0001583]