Canonical Allele Identifier: CA005956

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67040
• ClinVar RCV Id: RCV000057601 ; RCV001854180 ; RCV003319316
• dbSNP Id: rs199472791
• MyVariant Identifiers: chr11:g.2790133C>T (hg19) ; chr11:g.2768903C>T (hg38)
• PubMed: PMID:15234419 ; PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768903C>T , CM000673.2:g.2768903C>T	GRCh38
NC_000011.9:g.2790133C>T , CM000673.1:g.2790133C>T	GRCh37
NC_000011.8:g.2746709C>T	NCBI36
NG_008935.1:g.328913C>T , LRG_287:g.328913C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1217C>T	ENSP00000434560.2:p.Ala406Val
ENST00000646564.2:c.1034C>T	ENSP00000495806.2:p.Ala345Val
ENST00000155840.12:c.1574C>T MANE Select	ENSP00000155840.2:p.Ala525Val
ENST00000335475.6:c.1193C>T	ENSP00000334497.5:p.Ala398Val
ENST00000646564.1:c.680C>T	ENSP00000495806.1:p.Ala227Val
ENST00000155840.9:c.1574C>T	ENSP00000155840.2:p.Ala525Val
ENST00000335475.5:c.1193C>T	ENSP00000334497.5:p.Ala398Val
NM_000218.2:c.1574C>T , LRG_287t1:c.1574C>T	NP_000209.2:p.Ala525Val
NM_181798.1:c.1193C>T , LRG_287t2:c.1193C>T	NP_861463.1:p.Ala398Val
NM_000218.3:c.1574C>T MANE Select	NP_000209.2:p.Ala525Val