Canonical Allele Identifier: CA934454588

Gene: KCNQ1

Linked Data

• gnomAD v3: 11-2444738-CGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCAGGGACGCCCTGTGCGCGCCGGACCGGCGGGGGCG-C
• gnomAD v4: 11-2444738-CGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCAGGGACGCCCTGTGCGCGCCGGACCGGCGGGGGCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444742_2444886del , CM000673.2:g.2444742_2444886del	GRCh38
NC_000011.9:g.2465972_2466116del , CM000673.1:g.2465972_2466116del	GRCh37
NC_000011.8:g.2422548_2422692del	NCBI36
NG_008935.1:g.4752_4896del , LRG_287:g.4752_4896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+34_23+178del	ENSP00000434560.2:n.23+34_23+178del
ENST00000496887.6:c.23+34_23+178del	ENSP00000434560.1:n.23+34_23+178del