Canonical Allele Identifier: CA008107
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53097
ClinVar RCV Id: RCV000182332
dbSNP Id: rs397508124
MyVariant Identifiers: chr11:g.2593319_2593327del (hg19) chr11:g.2572089_2572097del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572089_2572097del , CM000673.2:g.2572089_2572097del GRCh38
NC_000011.9:g.2593319_2593327del , CM000673.1:g.2593319_2593327del GRCh37
NC_000011.8:g.2549895_2549903del NCBI36
NG_008935.1:g.132099_132107del , LRG_287:g.132099_132107del

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.499_507del ENSP00000434560.2:p.Val167_Phe169del
ENST00000646564.2:c.478-11346_478-11338del ENSP00000495806.2:n.478-11346_478-11338de...
ENST00000155840.12:c.760_768del MANE Select ENSP00000155840.2:p.Val254_Phe256del
ENST00000335475.6:c.379_387del ENSP00000334497.5:p.Val127_Phe129del
ENST00000646564.1:c.124-11346_124-11338del ENSP00000495806.1:n.124-11346_124-11338de...
ENST00000155840.9:c.760_768del ENSP00000155840.2:p.Val254_Phe256del
ENST00000335475.5:c.379_387del ENSP00000334497.5:p.Val127_Phe129del
ENST00000496887.6:c.499_507del ENSP00000434560.1:p.Val167_Phe169del
NM_000218.2:c.760_768del , LRG_287t1:c.760_768del NP_000209.2:p.Val254_Phe256del
NM_181798.1:c.379_387del , LRG_287t2:c.379_387del NP_861463.1:p.Val127_Phe129del
NM_000218.3:c.760_768del MANE Select NP_000209.2:p.Val254_Phe256del
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