Canonical Allele Identifier: CA008712

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53131
• ClinVar RCV Id: RCV000057802
• dbSNP Id: rs199472743
• MyVariant Identifiers: chr11:g.2604669C>G (hg19) ; chr11:g.2583439C>G (hg38)
• PubMed: PMID:9386136 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583439C>G , CM000673.2:g.2583439C>G	GRCh38
NC_000011.9:g.2604669C>G , CM000673.1:g.2604669C>G	GRCh37
NC_000011.8:g.2561245C>G	NCBI36
NG_008935.1:g.143449C>G , LRG_287:g.143449C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.665C>G	ENSP00000434560.2:p.Thr222Arg
ENST00000646564.2:c.482C>G	ENSP00000495806.2:p.Thr161Arg
ENST00000155840.12:c.926C>G MANE Select	ENSP00000155840.2:p.Thr309Arg
ENST00000335475.6:c.545C>G	ENSP00000334497.5:p.Thr182Arg
ENST00000646564.1:c.128C>G	ENSP00000495806.1:p.Thr43Arg
ENST00000155840.9:c.926C>G	ENSP00000155840.2:p.Thr309Arg
ENST00000335475.5:c.545C>G	ENSP00000334497.5:p.Thr182Arg
NM_000218.2:c.926C>G , LRG_287t1:c.926C>G	NP_000209.2:p.Thr309Arg
NM_181798.1:c.545C>G , LRG_287t2:c.545C>G	NP_861463.1:p.Thr182Arg
NM_000218.3:c.926C>G MANE Select	NP_000209.2:p.Thr309Arg