Canonical Allele Identifier: CA005148
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 52948
ClinVar RCV Id: RCV001368548 RCV001841621
dbSNP Id: rs199473405
MyVariant Identifiers: chr11:g.2606479A>G (hg19) chr11:g.2585249A>G (hg38)
PubMed: PMID:12702160 PMID:16564513 PMID:21952006 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2585249A>G , CM000673.2:g.2585249A>G GRCh38
NC_000011.9:g.2606479A>G , CM000673.1:g.2606479A>G GRCh37
NC_000011.8:g.2563055A>G NCBI36
NG_008935.1:g.145259A>G , LRG_287:g.145259A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.771+1704A>G ENSP00000434560.2:n.771+1704A>G
ENST00000646564.2:c.588+1704A>G ENSP00000495806.2:n.588+1704A>G
ENST00000155840.12:c.1070A>G MANE Select ENSP00000155840.2:p.Gln357Arg
ENST00000335475.6:c.689A>G ENSP00000334497.5:p.Gln230Arg
ENST00000646564.1:c.234+1704A>G ENSP00000495806.1:n.234+1704A>G
ENST00000155840.9:c.1070A>G ENSP00000155840.2:p.Gln357Arg
ENST00000335475.5:c.689A>G ENSP00000334497.5:p.Gln230Arg
NM_000218.2:c.1070A>G , LRG_287t1:c.1070A>G NP_000209.2:p.Gln357Arg
NM_181798.1:c.689A>G , LRG_287t2:c.689A>G NP_861463.1:p.Gln230Arg
NM_000218.3:c.1070A>G MANE Select NP_000209.2:p.Gln357Arg
Search 100 bp 5'
Search 100 bp 3'