Canonical Allele Identifier: CA934454615

Gene: KCNQ1

Linked Data

• gnomAD v3: 11-2444744-CGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCAGGGACGCCCTGTGCGCGCCGGACCGGCGGGGGCGGGGCGT-C
• gnomAD v4: 11-2444744-CGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCAGGGACGCCCTGTGCGCGCCGGACCGGCGGGGGCGGGGCGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444761_2444905del , CM000673.2:g.2444761_2444905del	GRCh38
NC_000011.9:g.2465991_2466135del , CM000673.1:g.2465991_2466135del	GRCh37
NC_000011.8:g.2422567_2422711del	NCBI36
NG_008935.1:g.4771_4915del , LRG_287:g.4771_4915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+53_23+197del	ENSP00000434560.2:n.23+53_23+197del
ENST00000496887.6:c.23+53_23+197del	ENSP00000434560.1:n.23+53_23+197del