Canonical Allele Identifier: CA007388
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67079
ClinVar RCV Id: RCV000057695 RCV001841684 RCV002345366 RCV002513749 RCV003989312
dbSNP Id: rs199473395
ExAC: 11:2591921 C / T
gnomAD v2: 11-2591921-C-T
gnomAD v3: 11-2570691-C-T
gnomAD v4: 11-2570691-C-T
MyVariant Identifiers: chr11:g.2591921C>T (hg19) chr11:g.2570691C>T (hg38)
PubMed: PMID:19841300 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570691C>T , CM000673.2:g.2570691C>T GRCh38
NC_000011.9:g.2591921C>T , CM000673.1:g.2591921C>T GRCh37
NC_000011.8:g.2548497C>T NCBI36
NG_008935.1:g.130701C>T , LRG_287:g.130701C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.280C>T ENSP00000434560.2:p.Arg94Cys
ENST00000646564.2:c.478-12744C>T ENSP00000495806.2:n.478-12744C>T
ENST00000155840.12:c.541C>T MANE Select ENSP00000155840.2:p.Arg181Cys
ENST00000335475.6:c.160C>T ENSP00000334497.5:p.Arg54Cys
ENST00000646564.1:c.124-12744C>T ENSP00000495806.1:n.124-12744C>T
ENST00000155840.9:c.541C>T ENSP00000155840.2:p.Arg181Cys
ENST00000335475.5:c.160C>T ENSP00000334497.5:p.Arg54Cys
ENST00000496887.6:c.280C>T ENSP00000434560.1:p.Arg94Cys
NM_000218.2:c.541C>T , LRG_287t1:c.541C>T NP_000209.2:p.Arg181Cys
NM_181798.1:c.160C>T , LRG_287t2:c.160C>T NP_861463.1:p.Arg54Cys
NM_000218.3:c.541C>T MANE Select NP_000209.2:p.Arg181Cys
Search 100 bp 5'
Search 100 bp 3'