ClinVar

NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr)

Genes:

KCNQ1OT1:KCNQ1 opposite strand/antisense transcript 1 [Gene - OMIM - HGNC]
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 2662023 (on Assembly GRCh38)
• Chr11: 2683253 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr)

HGVS:

• NC_000011.10:g.2662023G>A
• NG_008935.1:g.222033G>A
• NG_016178.2:g.42976C>T
• NM_000218.3:c.1456G>AMANE SELECT
• NM_001406836.1:c.1360G>A
• NM_001406837.1:c.1186G>A
• NM_001406838.1:c.916G>A
• NM_181798.2:c.1075G>A
• NP_000209.2:p.Ala486Thr
• NP_000209.2:p.Ala486Thr
• NP_001393765.1:p.Ala454Thr
• NP_001393766.1:p.Ala396Thr
• NP_001393767.1:p.Ala306Thr
• NP_861463.1:p.Ala359Thr
• NP_861463.1:p.Ala359Thr
• LRG_1052t1:n.37976C>T
• LRG_287t1:c.1456G>A
• LRG_287t2:c.1075G>A
• LRG_1052:g.42976C>T
• LRG_287:g.222033G>A
• LRG_287p1:p.Ala486Thr
• LRG_287p2:p.Ala359Thr
• NC_000011.9:g.2683253G>A
• NC_000011.9:g.2683253G>A
• NM_000218.2:c.1456G>A
• NM_181798.1:c.1075G>A
• NR_002728.3:n.37976C>T
• NR_002728.4:n.37972C>TMANE SELECT
• NR_040711.2:n.1349G>A

This HGVS expression did not pass validation

Protein change:

A306T

Links:

dbSNP: rs753256800

Molecular consequence:

• NM_000218.3:c.1456G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406836.1:c.1360G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406838.1:c.916G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.1075G>A - missense variant - [Sequence Ontology: SO:0001583]