Canonical Allele Identifier: CA006598
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
ClinGen Evidence Repository:
Classification Benign
Condition long QT syndrome 1
VCEP Potassium Channel Arrhythmia VCEP
COSMIC:
COSM6352445 (not active)
COSM6352446 (not active)
MyVariant.info:
GRCh38 chr11:g.2847899G>A
GRCh37 chr11:g.2869129G>A
Revel Score:
ENST00000155840 (MANE Select) 0.566
ENST00000335475 0.566
gnomAD v2:
11:2869129 G / A
gnomAD v3:
11:2847899 G / A
gnomAD v4:
chr11-2847899-G-A
Joint Max Group AF 0.04605411 (EAS)
Genomes Max Group AF 0.03812858 (EAS)
Exomes Max Group AF 0.0466172 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847899G>A , CM000673.2:g.2847899G>A GRCh38
NC_000011.9:g.2869129G>A , CM000673.1:g.2869129G>A GRCh37
NC_000011.8:g.2825705G>A NCBI36
NG_008935.1:g.407909G>A , LRG_287:g.407909G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1570G>A (KCNQ1) ENSP00000434560.2:p.Gly524Ser
ENST00000155840.12:c.1927G>A (KCNQ1) MANE Select ENSP00000155840.2:p.Gly643Ser
ENST00000335475.6:c.1546G>A (KCNQ1) ENSP00000334497.5:p.Gly516Ser
ENST00000526095.2:c.331G>A (KCNQ1) ENSP00000494939.1:p.Gly111Ser
ENST00000155840.9:c.1927G>A (KCNQ1) ENSP00000155840.2:p.Gly643Ser
ENST00000335475.5:c.1546G>A (KCNQ1) ENSP00000334497.5:p.Gly516Ser
ENST00000526095.1:n.434G>A (KCNQ1)
NM_000218.2:c.1927G>A , LRG_287t1:c.1927G>A (KCNQ1) NP_000209.2:p.Gly643Ser
NM_181798.1:c.1546G>A , LRG_287t2:c.1546G>A (KCNQ1) NP_861463.1:p.Gly516Ser
NR_130721.1:n.778-7457C>T (KCNQ1-AS1)
NM_000218.3:c.1927G>A (KCNQ1) MANE Select NP_000209.2:p.Gly643Ser
Search 100 bp 5'
Search 100 bp 3'