Canonical Allele Identifier: CA934454294

Gene: KCNQ1

Linked Data

• gnomAD v3: 11-2444662-AGGGGGCGGGGCCAAGCGGGATAGATGACACGAGCGGGGCTAAGCAGGTGGGCTCGGGCGGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCAGGGACGCCCTGTGCGCGCCGGACCGGCGGGGGCGGGGCGTGCAGGC-A
• gnomAD v4: 11-2444662-AGGGGGCGGGGCCAAGCGGGATAGATGACACGAGCGGGGCTAAGCAGGTGGGCTCGGGCGGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCAGGGACGCCCTGTGCGCGCCGGACCGGCGGGGGCGGGGCGTGCAGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444674_2444906del , CM000673.2:g.2444674_2444906del	GRCh38
NC_000011.9:g.2465904_2466136del , CM000673.1:g.2465904_2466136del	GRCh37
NC_000011.8:g.2422480_2422712del	NCBI36
NG_008935.1:g.4684_4916del , LRG_287:g.4684_4916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.-12_23+198del