Canonical Allele Identifier: CA004847
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 52930
ClinVar RCV Id: RCV000045930 RCV000505797 RCV000621148 RCV002496698
dbSNP Id: rs397508068
gnomAD v2: 11-2604756-CCTT-C
gnomAD v4: 11-2583526-CCTT-C
MyVariant Identifiers: chr11:g.2604760_2604762del (hg19) chr11:g.2604757_2604759del (hg19) chr11:g.2583530_2583532del (hg38) chr11:g.2583527_2583529del (hg38)
PubMed: PMID:9702906 PMID:10973849 PMID:15950200 PMID:16922724 PMID:17470695 PMID:19716085 PMID:19841300 PMID:24606995 PMID:26669661
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583530_2583532del , CM000673.2:g.2583530_2583532del GRCh38
NC_000011.9:g.2604760_2604762del , CM000673.1:g.2604760_2604762del GRCh37
NC_000011.8:g.2561336_2561338del NCBI36
NG_008935.1:g.143540_143542del , LRG_287:g.143540_143542del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.756_758del ENSP00000434560.2:p.Phe253del
ENST00000646564.2:c.573_575del ENSP00000495806.2:p.Phe192del
ENST00000155840.12:c.1017_1019del MANE Select ENSP00000155840.2:p.Phe340del
ENST00000335475.6:c.636_638del ENSP00000334497.5:p.Phe213del
ENST00000646564.1:c.219_221del ENSP00000495806.1:p.Phe74del
ENST00000155840.9:c.1017_1019del ENSP00000155840.2:p.Phe340del
ENST00000335475.5:c.636_638del ENSP00000334497.5:p.Phe213del
NM_000218.2:c.1017_1019del , LRG_287t1:c.1017_1019del NP_000209.2:p.Phe340del
NM_181798.1:c.636_638del , LRG_287t2:c.636_638del NP_861463.1:p.Phe213del
NM_000218.3:c.1017_1019del MANE Select NP_000209.2:p.Phe340del
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