ClinVar

NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)

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: 150957380 (on Assembly GRCh38)
• Chr7: 150654468 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)

Other names:

p.P347S:CCC>TCC

HGVS:

• NC_000007.14:g.150957380G>A
• NG_008916.1:g.25547C>T
• NM_000238.4:c.1039C>TMANE SELECT
• NM_001406753.1:c.751C>T
• NM_001406755.1:c.862C>T
• NM_001406756.1:c.751C>T
• NM_001406757.1:c.739C>T
• NM_172056.3:c.1039C>T
• NP_000229.1:p.Pro347Ser
• NP_000229.1:p.Pro347Ser
• NP_001393682.1:p.Pro251Ser
• NP_001393684.1:p.Pro288Ser
• NP_001393685.1:p.Pro251Ser
• NP_001393686.1:p.Pro247Ser
• NP_742053.1:p.Pro347Ser
• NP_742053.1:p.Pro347Ser
• LRG_288t1:c.1039C>T
• LRG_288t2:c.1039C>T
• LRG_288:g.25547C>T
• LRG_288p1:p.Pro347Ser
• LRG_288p2:p.Pro347Ser
• NC_000007.13:g.150654468G>A
• NM_000238.2:c.1039C>T
• NM_000238.3:c.1039C>T
• NM_172056.2:c.1039C>T
• NR_176254.1:n.1447C>T
• Q12809:p.Pro347Ser

This HGVS expression did not pass validation

Protein change:

P247S

Links:

UniProtKB: Q12809#VAR_009912; dbSNP: rs138776684

NCBI 1000 Genomes Browser:

rs138776684

Molecular consequence:

• NM_000238.4:c.1039C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406753.1:c.751C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406755.1:c.862C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406756.1:c.751C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406757.1:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172056.3:c.1039C>T - missense variant - [Sequence Ontology: SO:0001583]