ClinVar

NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser)

Genes:

KCNQ1-AS1:KCNQ1 antisense RNA 1 [Gene - HGNC]
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 2847833 (on Assembly GRCh38)
• Chr11: 2869063 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser)

HGVS:

• NC_000011.10:g.2847833G>A
• NG_008935.1:g.407843G>A
• NM_000218.3:c.1861G>AMANE SELECT
• NM_001406836.1:c.1765G>A
• NM_001406837.1:c.1591G>A
• NM_001406838.1:c.1321G>A
• NM_001406839.1:c.373G>A
• NM_181798.2:c.1480G>A
• NP_000209.2:p.Gly621Ser
• NP_000209.2:p.Gly621Ser
• NP_001393765.1:p.Gly589Ser
• NP_001393766.1:p.Gly531Ser
• NP_001393767.1:p.Gly441Ser
• NP_001393768.1:p.Gly125Ser
• NP_861463.1:p.Gly494Ser
• NP_861463.1:p.Gly494Ser
• LRG_287t1:c.1861G>A
• LRG_287t2:c.1480G>A
• LRG_287:g.407843G>A
• LRG_287p1:p.Gly621Ser
• LRG_287p2:p.Gly494Ser
• NC_000011.9:g.2869063G>A
• NM_000218.2:c.1861G>A
• NM_181798.1:c.1480G>A
• NR_040711.2:n.1754G>A

This HGVS expression did not pass validation

Protein change:

G125S

Links:

dbSNP: rs199472820

NCBI 1000 Genomes Browser:

rs199472820

Molecular consequence:

• NM_000218.3:c.1861G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406836.1:c.1765G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406838.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406839.1:c.373G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.1480G>A - missense variant - [Sequence Ontology: SO:0001583]