Canonical Allele Identifier: CA934454346

Gene: KCNQ1

Linked Data

• gnomAD v3: 11-2444694-AGCGGGGCTAAGCAGGTGGGCTCGGGCGGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGG-A
• gnomAD v4: 11-2444694-AGCGGGGCTAAGCAGGTGGGCTCGGGCGGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444700_2444828del , CM000673.2:g.2444700_2444828del	GRCh38
NC_000011.9:g.2465930_2466058del , CM000673.1:g.2465930_2466058del	GRCh37
NC_000011.8:g.2422506_2422634del	NCBI36
NG_008935.1:g.4710_4838del , LRG_287:g.4710_4838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.15_23+120del
ENST00000496887.6:c.15_23+120del