Canonical Allele Identifier: CA008759
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3116
ClinVar RCV Id: RCV000003263 RCV000057808 RCV000182136 RCV001386969 RCV001841222 RCV002444417
dbSNP Id: rs120074182
MyVariant Identifiers: chr11:g.2604678C>T (hg19) chr11:g.2583448C>T (hg38)
PubMed: PMID:8528244 PMID:9323054 PMID:10973849 PMID:14678125 PMID:15051636 PMID:15466642 PMID:15840476 PMID:17470695 PMID:19716085 PMID:19841300 PMID:20368164 PMID:22456477 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583448C>T , CM000673.2:g.2583448C>T GRCh38
NC_000011.9:g.2604678C>T , CM000673.1:g.2604678C>T GRCh37
NC_000011.8:g.2561254C>T NCBI36
NG_008935.1:g.143458C>T , LRG_287:g.143458C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.674C>T ENSP00000434560.2:p.Thr225Ile
ENST00000646564.2:c.491C>T ENSP00000495806.2:p.Thr164Ile
ENST00000155840.12:c.935C>T MANE Select ENSP00000155840.2:p.Thr312Ile
ENST00000335475.6:c.554C>T ENSP00000334497.5:p.Thr185Ile
ENST00000646564.1:c.137C>T ENSP00000495806.1:p.Thr46Ile
ENST00000155840.9:c.935C>T ENSP00000155840.2:p.Thr312Ile
ENST00000335475.5:c.554C>T ENSP00000334497.5:p.Thr185Ile
NM_000218.2:c.935C>T , LRG_287t1:c.935C>T NP_000209.2:p.Thr312Ile
NM_181798.1:c.554C>T , LRG_287t2:c.554C>T NP_861463.1:p.Thr185Ile
NM_000218.3:c.935C>T MANE Select NP_000209.2:p.Thr312Ile
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