Canonical Allele Identifier: CA007795
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67094
ClinVar RCV Id: RCV000057725 RCV000115006 RCV000232681
dbSNP Id: rs199472705
MyVariant Identifiers: chr11:g.2592575T>C (hg19) chr11:g.2571345T>C (hg38)
PubMed: PMID:19632626 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2571345T>C , CM000673.2:g.2571345T>C GRCh38
NC_000011.9:g.2592575T>C , CM000673.1:g.2592575T>C GRCh37
NC_000011.8:g.2549151T>C NCBI36
NG_008935.1:g.131355T>C , LRG_287:g.131355T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.364T>C ENSP00000434560.2:p.Ser122Pro
ENST00000646564.2:c.478-12090T>C ENSP00000495806.2:n.478-12090T>C
ENST00000155840.12:c.625T>C MANE Select ENSP00000155840.2:p.Ser209Pro
ENST00000335475.6:c.244T>C ENSP00000334497.5:p.Ser82Pro
ENST00000646564.1:c.124-12090T>C ENSP00000495806.1:n.124-12090T>C
ENST00000155840.9:c.625T>C ENSP00000155840.2:p.Ser209Pro
ENST00000335475.5:c.244T>C ENSP00000334497.5:p.Ser82Pro
ENST00000496887.6:c.364T>C ENSP00000434560.1:p.Ser122Pro
NM_000218.2:c.625T>C , LRG_287t1:c.625T>C NP_000209.2:p.Ser209Pro
NM_181798.1:c.244T>C , LRG_287t2:c.244T>C NP_861463.1:p.Ser82Pro
NM_000218.3:c.625T>C MANE Select NP_000209.2:p.Ser209Pro
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