Canonical Allele Identifier: CA16619309
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420529
ClinVar RCV Id: RCV000486193
dbSNP Id: rs1064794538
MyVariant Identifiers: chr11:g.2592572del (hg19) chr11:g.2571342del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2571342del , CM000673.2:g.2571342del GRCh38
NC_000011.9:g.2592572del , CM000673.1:g.2592572del GRCh37
NC_000011.8:g.2549148del NCBI36
NG_008935.1:g.131352del , LRG_287:g.131352del

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.361del ENSP00000434560.2:p.Ala121ProfsTer29
ENST00000646564.2:c.478-12093del ENSP00000495806.2:n.478-12093del
ENST00000155840.12:c.622del MANE Select ENSP00000155840.2:p.Ala208ProfsTer29
ENST00000335475.6:c.241del ENSP00000334497.5:p.Ala81ProfsTer29
ENST00000646564.1:c.124-12093del ENSP00000495806.1:n.124-12093del
ENST00000155840.9:c.622del ENSP00000155840.2:p.Ala208ProfsTer29
ENST00000335475.5:c.241del ENSP00000334497.5:p.Ala81ProfsTer29
ENST00000496887.6:c.361del ENSP00000434560.1:p.Ala121ProfsTer29
NM_000218.2:c.622del , LRG_287t1:c.622del NP_000209.2:p.Ala208ProfsTer29
NM_181798.1:c.241del , LRG_287t2:c.241del NP_861463.1:p.Ala81ProfsTer29
NM_000218.3:c.622del MANE Select NP_000209.2:p.Ala208ProfsTer29
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