Canonical Allele Identifier: CA674857694
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs200252749
gnomAD v3: 11-2444815-G-GC
gnomAD v4: 11-2444815-G-GC
MyVariant Identifiers: chr11:g.2466045_2466046insC (hg19) chr11:g.2444815_2444816insC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444815_2444816insC , CM000673.2:g.2444815_2444816insC GRCh38
NC_000011.9:g.2466045_2466046insC , CM000673.1:g.2466045_2466046insC GRCh37
NC_000011.8:g.2422621_2422622insC NCBI36
NG_008935.1:g.4825_4826insC , LRG_287:g.4825_4826insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+107_23+108insC ENSP00000434560.2:n.23+107_23+108insC
ENST00000496887.6:c.23+107_23+108insC ENSP00000434560.1:n.23+107_23+108insC
Search 100 bp 5'
Search 100 bp 3'