Canonical Allele Identifier: CA007935
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53088
ClinVar RCV Id: RCV001841651
dbSNP Id: rs199472710
MyVariant Identifiers: chr11:g.2593263T>A (hg19) chr11:g.2572033T>A (hg38)
PubMed: PMID:15466642 PMID:15840476 PMID:19590188 PMID:19716085 PMID:19841300 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572033T>A , CM000673.2:g.2572033T>A GRCh38
NC_000011.9:g.2593263T>A , CM000673.1:g.2593263T>A GRCh37
NC_000011.8:g.2549839T>A NCBI36
NG_008935.1:g.132043T>A , LRG_287:g.132043T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.443T>A ENSP00000434560.2:p.Ile148Asn
ENST00000646564.2:c.478-11402T>A ENSP00000495806.2:n.478-11402T>A
ENST00000155840.12:c.704T>A MANE Select ENSP00000155840.2:p.Ile235Asn
ENST00000335475.6:c.323T>A ENSP00000334497.5:p.Ile108Asn
ENST00000646564.1:c.124-11402T>A ENSP00000495806.1:n.124-11402T>A
ENST00000155840.9:c.704T>A ENSP00000155840.2:p.Ile235Asn
ENST00000335475.5:c.323T>A ENSP00000334497.5:p.Ile108Asn
ENST00000496887.6:c.443T>A ENSP00000434560.1:p.Ile148Asn
NM_000218.2:c.704T>A , LRG_287t1:c.704T>A NP_000209.2:p.Ile235Asn
NM_181798.1:c.323T>A , LRG_287t2:c.323T>A NP_861463.1:p.Ile108Asn
NM_000218.3:c.704T>A MANE Select NP_000209.2:p.Ile235Asn
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