Canonical Allele Identifier: CA008270
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67107
ClinVar RCV Id: RCV000057764 RCV000182117 RCV000466406
dbSNP Id: rs199472725
MyVariant Identifiers: chr11:g.2594098T>G (hg19) chr11:g.2572868T>G (hg38)
PubMed: PMID:19716085 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572868T>G , CM000673.2:g.2572868T>G GRCh38
NC_000011.9:g.2594098T>G , CM000673.1:g.2594098T>G GRCh37
NC_000011.8:g.2550674T>G NCBI36
NG_008935.1:g.132878T>G , LRG_287:g.132878T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.542T>G ENSP00000434560.2:p.Ile181Ser
ENST00000646564.2:c.478-10567T>G ENSP00000495806.2:n.478-10567T>G
ENST00000155840.12:c.803T>G MANE Select ENSP00000155840.2:p.Ile268Ser
ENST00000335475.6:c.422T>G ENSP00000334497.5:p.Ile141Ser
ENST00000646564.1:c.124-10567T>G ENSP00000495806.1:n.124-10567T>G
ENST00000155840.9:c.803T>G ENSP00000155840.2:p.Ile268Ser
ENST00000335475.5:c.422T>G ENSP00000334497.5:p.Ile141Ser
ENST00000496887.6:c.542T>G ENSP00000434560.1:p.Ile181Ser
NM_000218.2:c.803T>G , LRG_287t1:c.803T>G NP_000209.2:p.Ile268Ser
NM_181798.1:c.422T>G , LRG_287t2:c.422T>G NP_861463.1:p.Ile141Ser
NM_000218.3:c.803T>G MANE Select NP_000209.2:p.Ile268Ser
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