Canonical Allele Identifier: CA674857590
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1374377744
gnomAD v3: 11-2444720-CG-C
gnomAD v4: 11-2444720-CG-C
MyVariant Identifiers: chr11:g.2465951del (hg19) chr11:g.2444721del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444725del , CM000673.2:g.2444725del GRCh38
NC_000011.9:g.2465955del , CM000673.1:g.2465955del GRCh37
NC_000011.8:g.2422531del NCBI36
NG_008935.1:g.4735del , LRG_287:g.4735del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+17del ENSP00000434560.2:n.23+17del
ENST00000496887.6:c.23+17del ENSP00000434560.1:n.23+17del
Search 100 bp 5'
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