Canonical Allele Identifier: CA008698

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53130
• ClinVar RCV Id: RCV000057801
• dbSNP Id: rs199473467
• MyVariant Identifiers: chr11:g.2604666T>A (hg19) ; chr11:g.2583436T>A (hg38)
• PubMed: PMID:16414944 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583436T>A , CM000673.2:g.2583436T>A	GRCh38
NC_000011.9:g.2604666T>A , CM000673.1:g.2604666T>A	GRCh37
NC_000011.8:g.2561242T>A	NCBI36
NG_008935.1:g.143446T>A , LRG_287:g.143446T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.662T>A	ENSP00000434560.2:p.Val221Asp
ENST00000646564.2:c.479T>A	ENSP00000495806.2:p.Val160Asp
ENST00000155840.12:c.923T>A MANE Select	ENSP00000155840.2:p.Val308Asp
ENST00000335475.6:c.542T>A	ENSP00000334497.5:p.Val181Asp
ENST00000646564.1:c.125T>A	ENSP00000495806.1:p.Val42Asp
ENST00000155840.9:c.923T>A	ENSP00000155840.2:p.Val308Asp
ENST00000335475.5:c.542T>A	ENSP00000334497.5:p.Val181Asp
NM_000218.2:c.923T>A , LRG_287t1:c.923T>A	NP_000209.2:p.Val308Asp
NM_181798.1:c.542T>A , LRG_287t2:c.542T>A	NP_861463.1:p.Val181Asp
NM_000218.3:c.923T>A MANE Select	NP_000209.2:p.Val308Asp