Canonical Allele Identifier: CA008752

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53134
• ClinVar RCV Id: RCV000057807 ; RCV003319314 ; RCV002513653
• dbSNP Id: rs199472746
• gnomAD v2: 11-2604675-C-T
• MyVariant Identifiers: chr11:g.2604675C>T (hg19) ; chr11:g.2583445C>T (hg38)
• PubMed: PMID:9482580 ; PMID:14678125 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583445C>T , CM000673.2:g.2583445C>T	GRCh38
NC_000011.9:g.2604675C>T , CM000673.1:g.2604675C>T	GRCh37
NC_000011.8:g.2561251C>T	NCBI36
NG_008935.1:g.143455C>T , LRG_287:g.143455C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.671C>T	ENSP00000434560.2:p.Thr224Ile
ENST00000646564.2:c.488C>T	ENSP00000495806.2:p.Thr163Ile
ENST00000155840.12:c.932C>T MANE Select	ENSP00000155840.2:p.Thr311Ile
ENST00000335475.6:c.551C>T	ENSP00000334497.5:p.Thr184Ile
ENST00000646564.1:c.134C>T	ENSP00000495806.1:p.Thr45Ile
ENST00000155840.9:c.932C>T	ENSP00000155840.2:p.Thr311Ile
ENST00000335475.5:c.551C>T	ENSP00000334497.5:p.Thr184Ile
NM_000218.2:c.932C>T , LRG_287t1:c.932C>T	NP_000209.2:p.Thr311Ile
NM_181798.1:c.551C>T , LRG_287t2:c.551C>T	NP_861463.1:p.Thr184Ile
NM_000218.3:c.932C>T MANE Select	NP_000209.2:p.Thr311Ile