Canonical Allele Identifier: CA008917

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53148
• ClinVar RCV Id: RCV000057828 ; RCV001387950
• dbSNP Id: rs199473470
• MyVariant Identifiers: chr11:g.2604702C>A (hg19) ; chr11:g.2583472C>A (hg38)
• PubMed: PMID:17470695 ; PMID:19540844 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583472C>A , CM000673.2:g.2583472C>A	GRCh38
NC_000011.9:g.2604702C>A , CM000673.1:g.2604702C>A	GRCh37
NC_000011.8:g.2561278C>A	NCBI36
NG_008935.1:g.143482C>A , LRG_287:g.143482C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.698C>A	ENSP00000434560.2:p.Pro233His
ENST00000646564.2:c.515C>A	ENSP00000495806.2:p.Pro172His
ENST00000155840.12:c.959C>A MANE Select	ENSP00000155840.2:p.Pro320His
ENST00000335475.6:c.578C>A	ENSP00000334497.5:p.Pro193His
ENST00000646564.1:c.161C>A	ENSP00000495806.1:p.Pro54His
ENST00000155840.9:c.959C>A	ENSP00000155840.2:p.Pro320His
ENST00000335475.5:c.578C>A	ENSP00000334497.5:p.Pro193His
NM_000218.2:c.959C>A , LRG_287t1:c.959C>A	NP_000209.2:p.Pro320His
NM_181798.1:c.578C>A , LRG_287t2:c.578C>A	NP_861463.1:p.Pro193His
NM_000218.3:c.959C>A MANE Select	NP_000209.2:p.Pro320His