Canonical Allele Identifier: CA008339

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53110
• ClinVar RCV Id: RCV000057770 ; RCV001852978
• dbSNP Id: rs199472727
• MyVariant Identifiers: chr11:g.2594113T>G (hg19) ; chr11:g.2572883T>G (hg38)
• PubMed: PMID:15840476 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572883T>G , CM000673.2:g.2572883T>G	GRCh38
NC_000011.9:g.2594113T>G , CM000673.1:g.2594113T>G	GRCh37
NC_000011.8:g.2550689T>G	NCBI36
NG_008935.1:g.132893T>G , LRG_287:g.132893T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.557T>G	ENSP00000434560.2:p.Leu186Arg
ENST00000646564.2:c.478-10552T>G	ENSP00000495806.2:n.478-10552T>G
ENST00000155840.12:c.818T>G MANE Select	ENSP00000155840.2:p.Leu273Arg
ENST00000335475.6:c.437T>G	ENSP00000334497.5:p.Leu146Arg
ENST00000646564.1:c.124-10552T>G	ENSP00000495806.1:n.124-10552T>G
ENST00000155840.9:c.818T>G	ENSP00000155840.2:p.Leu273Arg
ENST00000335475.5:c.437T>G	ENSP00000334497.5:p.Leu146Arg
ENST00000496887.6:c.557T>G	ENSP00000434560.1:p.Leu186Arg
NM_000218.2:c.818T>G , LRG_287t1:c.818T>G	NP_000209.2:p.Leu273Arg
NM_181798.1:c.437T>G , LRG_287t2:c.437T>G	NP_861463.1:p.Leu146Arg
NM_000218.3:c.818T>G MANE Select	NP_000209.2:p.Leu273Arg