Canonical Allele Identifier: CA934454380

Gene: KCNQ1

Linked Data

• gnomAD v3: 11-2444707-AGGTGGGCTCGGGCGGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCC-A
• gnomAD v4: 11-2444707-AGGTGGGCTCGGGCGGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444715_2444842del , CM000673.2:g.2444715_2444842del	GRCh38
NC_000011.9:g.2465945_2466072del , CM000673.1:g.2465945_2466072del	GRCh37
NC_000011.8:g.2422521_2422648del	NCBI36
NG_008935.1:g.4725_4852del , LRG_287:g.4725_4852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+7_23+134del
ENST00000496887.6:c.23+7_23+134del