Canonical Allele Identifier: CA934454411

Gene: KCNQ1

Linked Data

• gnomAD v3: 11-2444715-TCGGGCGGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCG-T
• gnomAD v4: 11-2444715-TCGGGCGGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444721_2444848del , CM000673.2:g.2444721_2444848del	GRCh38
NC_000011.9:g.2465951_2466078del , CM000673.1:g.2465951_2466078del	GRCh37
NC_000011.8:g.2422527_2422654del	NCBI36
NG_008935.1:g.4731_4858del , LRG_287:g.4731_4858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+13_23+140del	ENSP00000434560.2:n.23+13_23+140del
ENST00000496887.6:c.23+13_23+140del	ENSP00000434560.1:n.23+13_23+140del