Canonical Allele Identifier: CA008720

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53132
• ClinVar RCV Id: RCV000057803 ; RCV001379437
• dbSNP Id: rs199472743
• MyVariant Identifiers: chr11:g.2604669C>T (hg19) ; chr11:g.2583439C>T (hg38)
• PubMed: PMID:11802537 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583439C>T , CM000673.2:g.2583439C>T	GRCh38
NC_000011.9:g.2604669C>T , CM000673.1:g.2604669C>T	GRCh37
NC_000011.8:g.2561245C>T	NCBI36
NG_008935.1:g.143449C>T , LRG_287:g.143449C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.665C>T	ENSP00000434560.2:p.Thr222Ile
ENST00000646564.2:c.482C>T	ENSP00000495806.2:p.Thr161Ile
ENST00000155840.12:c.926C>T MANE Select	ENSP00000155840.2:p.Thr309Ile
ENST00000335475.6:c.545C>T	ENSP00000334497.5:p.Thr182Ile
ENST00000646564.1:c.128C>T	ENSP00000495806.1:p.Thr43Ile
ENST00000155840.9:c.926C>T	ENSP00000155840.2:p.Thr309Ile
ENST00000335475.5:c.545C>T	ENSP00000334497.5:p.Thr182Ile
NM_000218.2:c.926C>T , LRG_287t1:c.926C>T	NP_000209.2:p.Thr309Ile
NM_181798.1:c.545C>T , LRG_287t2:c.545C>T	NP_861463.1:p.Thr182Ile
NM_000218.3:c.926C>T MANE Select	NP_000209.2:p.Thr309Ile