Canonical Allele Identifier: CA007037
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3143
ClinVar RCV Id: RCV000003293 RCV000057673
dbSNP Id: rs120074192
MyVariant Identifiers: chr11:g.2549189A>G (hg19) chr11:g.2527959A>G (hg38)
PubMed: PMID:12522251 PMID:15368194 PMID:17467630 PMID:17999538 PMID:18599533 PMID:21224508 PMID:22250012 PMID:22508963 PMID:22581653
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2527959A>G , CM000673.2:g.2527959A>G GRCh38
NC_000011.9:g.2549189A>G , CM000673.1:g.2549189A>G GRCh37
NC_000011.8:g.2505765A>G NCBI36
NG_008935.1:g.87969A>G , LRG_287:g.87969A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000380776.5:n.215A>G
ENST00000496887.7:c.157A>G ENSP00000434560.2:p.Ser53Gly
ENST00000646564.2:c.418A>G ENSP00000495806.2:p.Ser140Gly
ENST00000155840.12:c.418A>G MANE Select ENSP00000155840.2:p.Ser140Gly
ENST00000335475.6:c.37A>G ENSP00000334497.5:p.Ser13Gly
ENST00000646564.1:c.64A>G ENSP00000495806.1:p.Ser22Gly
ENST00000155840.9:c.418A>G ENSP00000155840.2:p.Ser140Gly
ENST00000335475.5:c.37A>G ENSP00000334497.5:p.Ser13Gly
ENST00000345015.4:n.287A>G
ENST00000380776.4:c.208A>G ENSP00000370153.4:p.Ser70Gly
ENST00000496887.6:c.157A>G ENSP00000434560.1:p.Ser53Gly
NM_000218.2:c.418A>G , LRG_287t1:c.418A>G NP_000209.2:p.Ser140Gly
NM_181798.1:c.37A>G , LRG_287t2:c.37A>G NP_861463.1:p.Ser13Gly
NM_000218.3:c.418A>G MANE Select NP_000209.2:p.Ser140Gly
Search 100 bp 5'
Search 100 bp 3'