Canonical Allele Identifier: CA16619310
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423306
ClinVar RCV Id: RCV000486506 RCV001248259 RCV002446944
dbSNP Id: rs1064796353
MyVariant Identifiers: chr11:g.2594145_2594147del (hg19) chr11:g.2572915_2572917del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572915_2572917del , CM000673.2:g.2572915_2572917del GRCh38
NC_000011.9:g.2594145_2594147del , CM000673.1:g.2594145_2594147del GRCh37
NC_000011.8:g.2550721_2550723del NCBI36
NG_008935.1:g.132925_132927del , LRG_287:g.132925_132927del

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.589_591del ENSP00000434560.2:p.Glu197del
ENST00000646564.2:c.478-10520_478-10518del ENSP00000495806.2:n.478-10520_478-10518de...
ENST00000155840.12:c.850_852del MANE Select ENSP00000155840.2:p.Glu284del
ENST00000335475.6:c.469_471del ENSP00000334497.5:p.Glu157del
ENST00000646564.1:c.124-10520_124-10518del ENSP00000495806.1:n.124-10520_124-10518de...
ENST00000155840.9:c.850_852del ENSP00000155840.2:p.Glu284del
ENST00000335475.5:c.469_471del ENSP00000334497.5:p.Glu157del
NM_000218.2:c.850_852del , LRG_287t1:c.850_852del NP_000209.2:p.Glu284del
NM_181798.1:c.469_471del , LRG_287t2:c.469_471del NP_861463.1:p.Glu157del
NM_000218.3:c.850_852del MANE Select NP_000209.2:p.Glu284del
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