ClinVar

NM_000238.4(KCNH2):c.1017C>T (p.Asn339=)

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: 150957402 (on Assembly GRCh38)
• Chr7: 150654490 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.1017C>T (p.Asn339=)

HGVS:

• NC_000007.14:g.150957402G>A
• NG_008916.1:g.25525C>T
• NM_000238.4:c.1017C>TMANE SELECT
• NM_001406753.1:c.729C>T
• NM_001406755.1:c.840C>T
• NM_001406756.1:c.729C>T
• NM_001406757.1:c.717C>T
• NM_172056.3:c.1017C>T
• NP_000229.1:p.Asn339=
• NP_000229.1:p.Asn339=
• NP_001393682.1:p.Asn243=
• NP_001393684.1:p.Asn280=
• NP_001393685.1:p.Asn243=
• NP_001393686.1:p.Asn239=
• NP_742053.1:p.Asn339=
• NP_742053.1:p.Asn339=
• LRG_288t1:c.1017C>T
• LRG_288t2:c.1017C>T
• LRG_288:g.25525C>T
• LRG_288p1:p.Asn339=
• LRG_288p2:p.Asn339=
• NC_000007.13:g.150654490G>A
• NM_000238.3:c.1017C>T
• NM_172056.2:c.1017C>T
• NR_176254.1:n.1425C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1801410026

NCBI 1000 Genomes Browser:

rs1801410026

Molecular consequence:

• NR_176254.1:n.1425C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000238.4:c.1017C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406753.1:c.729C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406755.1:c.840C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406756.1:c.729C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406757.1:c.717C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172056.3:c.1017C>T - synonymous variant - [Sequence Ontology: SO:0001819]