Canonical Allele Identifier: CA008945

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53150
• ClinVar RCV Id: RCV000057830 ; RCV000853590 ; RCV004017356
• dbSNP Id: rs199472755
• gnomAD v4: 11-2583478-C-A
• MyVariant Identifiers: chr11:g.2604708C>A (hg19) ; chr11:g.2583478C>A (hg38)
• PubMed: PMID:19862833 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583478C>A , CM000673.2:g.2583478C>A	GRCh38
NC_000011.9:g.2604708C>A , CM000673.1:g.2604708C>A	GRCh37
NC_000011.8:g.2561284C>A	NCBI36
NG_008935.1:g.143488C>A , LRG_287:g.143488C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.704C>A	ENSP00000434560.2:p.Thr235Lys
ENST00000646564.2:c.521C>A	ENSP00000495806.2:p.Thr174Lys
ENST00000155840.12:c.965C>A MANE Select	ENSP00000155840.2:p.Thr322Lys
ENST00000335475.6:c.584C>A	ENSP00000334497.5:p.Thr195Lys
ENST00000646564.1:c.167C>A	ENSP00000495806.1:p.Thr56Lys
ENST00000155840.9:c.965C>A	ENSP00000155840.2:p.Thr322Lys
ENST00000335475.5:c.584C>A	ENSP00000334497.5:p.Thr195Lys
NM_000218.2:c.965C>A , LRG_287t1:c.965C>A	NP_000209.2:p.Thr322Lys
NM_181798.1:c.584C>A , LRG_287t2:c.584C>A	NP_861463.1:p.Thr195Lys
NM_000218.3:c.965C>A MANE Select	NP_000209.2:p.Thr322Lys