Canonical Allele Identifier: CA005470

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52969
• ClinVar RCV Id: RCV000045973 ; RCV000057569 ; RCV000218718 ; RCV001841625
• dbSNP Id: rs199472775
• gnomAD v4: 11-2587619-A-T
• MyVariant Identifiers: chr11:g.2608849A>T (hg19) ; chr11:g.2587619A>T (hg38)
• PubMed: PMID:16414944 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587619A>T , CM000673.2:g.2587619A>T	GRCh38
NC_000011.9:g.2608849A>T , CM000673.1:g.2608849A>T	GRCh37
NC_000011.8:g.2565425A>T	NCBI36
NG_008935.1:g.147629A>T , LRG_287:g.147629A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.821A>T	ENSP00000434560.2:p.Lys274Met
ENST00000646564.2:c.638A>T	ENSP00000495806.2:p.Lys213Met
ENST00000155840.12:c.1178A>T MANE Select	ENSP00000155840.2:p.Lys393Met
ENST00000335475.6:c.797A>T	ENSP00000334497.5:p.Lys266Met
ENST00000646564.1:c.284A>T	ENSP00000495806.1:p.Lys95Met
ENST00000155840.9:c.1178A>T	ENSP00000155840.2:p.Lys393Met
ENST00000335475.5:c.797A>T	ENSP00000334497.5:p.Lys266Met
NM_000218.2:c.1178A>T , LRG_287t1:c.1178A>T	NP_000209.2:p.Lys393Met
NM_181798.1:c.797A>T , LRG_287t2:c.797A>T	NP_861463.1:p.Lys266Met
NM_000218.3:c.1178A>T MANE Select	NP_000209.2:p.Lys393Met