Canonical Allele Identifier: CA674857613
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1374106455
gnomAD v3: 11-2444735-GGGCGGGGGCGCA-G
gnomAD v4: 11-2444735-GGGCGGGGGCGCA-G
MyVariant Identifiers: chr11:g.2465966_2465977del (hg19) chr11:g.2444736_2444747del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444746_2444757del , CM000673.2:g.2444746_2444757del GRCh38
NC_000011.9:g.2465976_2465987del , CM000673.1:g.2465976_2465987del GRCh37
NC_000011.8:g.2422552_2422563del NCBI36
NG_008935.1:g.4756_4767del , LRG_287:g.4756_4767del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+38_23+49del ENSP00000434560.2:n.23+38_23+49del
ENST00000496887.6:c.23+38_23+49del ENSP00000434560.1:n.23+38_23+49del
Search 100 bp 5'
Search 100 bp 3'