Canonical Allele Identifier: CA005117
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 52945
ClinVar RCV Id: RCV000057542 RCV000182166 RCV001340231
dbSNP Id: rs199473403
MyVariant Identifiers: chr11:g.2606467T>C (hg19) chr11:g.2585237T>C (hg38)
PubMed: PMID:9693036 PMID:15840476 PMID:17470695 PMID:19841300 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2585237T>C , CM000673.2:g.2585237T>C GRCh38
NC_000011.9:g.2606467T>C , CM000673.1:g.2606467T>C GRCh37
NC_000011.8:g.2563043T>C NCBI36
NG_008935.1:g.145247T>C , LRG_287:g.145247T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.771+1692T>C ENSP00000434560.2:n.771+1692T>C
ENST00000646564.2:c.588+1692T>C ENSP00000495806.2:n.588+1692T>C
ENST00000155840.12:c.1058T>C MANE Select ENSP00000155840.2:p.Leu353Pro
ENST00000335475.6:c.677T>C ENSP00000334497.5:p.Leu226Pro
ENST00000646564.1:c.234+1692T>C ENSP00000495806.1:n.234+1692T>C
ENST00000155840.9:c.1058T>C ENSP00000155840.2:p.Leu353Pro
ENST00000335475.5:c.677T>C ENSP00000334497.5:p.Leu226Pro
NM_000218.2:c.1058T>C , LRG_287t1:c.1058T>C NP_000209.2:p.Leu353Pro
NM_181798.1:c.677T>C , LRG_287t2:c.677T>C NP_861463.1:p.Leu226Pro
NM_000218.3:c.1058T>C MANE Select NP_000209.2:p.Leu353Pro
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