Canonical Allele Identifier: CA008759

Gene: KCNQ1

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

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