Canonical Allele Identifier: CA006094
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67045
ClinVar RCV Id: RCV000057609 RCV001841674 RCV001854181
dbSNP Id: rs199472798
gnomAD v4: 11-2776009-A-G
MyVariant Identifiers: chr11:g.2797239A>G (hg19) chr11:g.2776009A>G (hg38)
PubMed: PMID:19716085 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2776009A>G , CM000673.2:g.2776009A>G GRCh38
NC_000011.9:g.2797239A>G , CM000673.1:g.2797239A>G GRCh37
NC_000011.8:g.2753815A>G NCBI36
NG_008935.1:g.336019A>G , LRG_287:g.336019A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1283A>G ENSP00000434560.2:p.Gln428Arg
ENST00000646564.2:c.1100A>G ENSP00000495806.2:p.Gln367Arg
ENST00000155840.12:c.1640A>G MANE Select ENSP00000155840.2:p.Gln547Arg
ENST00000335475.6:c.1259A>G ENSP00000334497.5:p.Gln420Arg
ENST00000646564.1:c.746A>G ENSP00000495806.1:p.Gln249Arg
ENST00000155840.9:c.1640A>G ENSP00000155840.2:p.Gln547Arg
ENST00000335475.5:c.1259A>G ENSP00000334497.5:p.Gln420Arg
NM_000218.2:c.1640A>G , LRG_287t1:c.1640A>G NP_000209.2:p.Gln547Arg
NM_181798.1:c.1259A>G , LRG_287t2:c.1259A>G NP_861463.1:p.Gln420Arg
NM_000218.3:c.1640A>G MANE Select NP_000209.2:p.Gln547Arg
Search 100 bp 5'
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