Canonical Allele Identifier: CA085191

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 444879
• ClinVar RCV Id: RCV000003296
• PubMed: PMID:14756674

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.[2572089G>A;2587690G>A] , CM000673.2:g.[2572089G>A;2587690G>A]	GRCh38
NC_000011.9:g.[2593319G>A;2608920G>A] , CM000673.1:g.[2593319G>A;2608920G>A]	GRCh37
NC_000011.8:g.[2549895G>A;2565496G>A]	NCBI36
NG_008935.1:g.[132099G>A;147700G>A] , LRG_287:g.[132099G>A;147700G>A]

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.[499G>A;892G>A]	ENSP00000434560.2:p.[Val167Met;Val298Met]...
ENST00000646564.2:c.[478-11346G>A;709G>A]	ENSP00000495806.2:p.Val237Met
ENST00000155840.12:c.[760G>A;1249G>A] MANE Select	ENSP00000155840.2:p.[Val254Met;Val417Met]...
ENST00000335475.6:c.[379G>A;868G>A]	ENSP00000334497.5:p.[Val127Met;Val290Met]...
ENST00000646564.1:c.[124-11346G>A;355G>A]	ENSP00000495806.1:p.Val119Met
ENST00000155840.9:c.[760G>A;1249G>A]	ENSP00000155840.2:p.[Val254Met;Val417Met]...
ENST00000335475.5:c.[379G>A;868G>A]	ENSP00000334497.5:p.[Val127Met;Val290Met]...
NM_000218.2:c.[760G>A;1249G>A] , LRG_287t1:c.[760G>A;1249G>A]	NP_000209.2:p.[Val254Met;Val417Met]
NM_181798.1:c.[379G>A;868G>A] , LRG_287t2:c.[379G>A;868G>A]	NP_861463.1:p.[Val127Met;Val290Met]
NM_000218.3:c.[760G>A;1249G>A] MANE Select	NP_000209.2:p.[Val254Met;Val417Met]