Canonical Allele Identifier: CA004906

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52932
• ClinVar RCV Id: RCV000057529 ; RCV000182312 ; RCV000617516 ; RCV000845338
• dbSNP Id: rs199472760
• COSMIC: COSM2113006 ; COSM4190808
• MyVariant Identifiers: chr11:g.2604767C>T (hg19) ; chr11:g.2583537C>T (hg38)
• PubMed: PMID:9312006 ; PMID:9386136 ; PMID:18752142 ; PMID:19716085 ; PMID:22581653 ; PMID:23098067 ; PMID:24217263

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583537C>T , CM000673.2:g.2583537C>T	GRCh38
NC_000011.9:g.2604767C>T , CM000673.1:g.2604767C>T	GRCh37
NC_000011.8:g.2561343C>T	NCBI36
NG_008935.1:g.143547C>T , LRG_287:g.143547C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.763C>T	ENSP00000434560.2:p.Leu255Phe
ENST00000646564.2:c.580C>T	ENSP00000495806.2:p.Leu194Phe
ENST00000155840.12:c.1024C>T MANE Select	ENSP00000155840.2:p.Leu342Phe
ENST00000335475.6:c.643C>T	ENSP00000334497.5:p.Leu215Phe
ENST00000646564.1:c.226C>T	ENSP00000495806.1:p.Leu76Phe
ENST00000155840.9:c.1024C>T	ENSP00000155840.2:p.Leu342Phe
ENST00000335475.5:c.643C>T	ENSP00000334497.5:p.Leu215Phe
NM_000218.2:c.1024C>T , LRG_287t1:c.1024C>T	NP_000209.2:p.Leu342Phe
NM_181798.1:c.643C>T , LRG_287t2:c.643C>T	NP_861463.1:p.Leu215Phe
NM_000218.3:c.1024C>T MANE Select	NP_000209.2:p.Leu342Phe