Canonical Allele Identifier: CA934454482

Gene: KCNQ1

Linked Data

• gnomAD v3: 11-2444721-GGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCA-G
• gnomAD v4: 11-2444721-GGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444725_2444852del , CM000673.2:g.2444725_2444852del	GRCh38
NC_000011.9:g.2465955_2466082del , CM000673.1:g.2465955_2466082del	GRCh37
NC_000011.8:g.2422531_2422658del	NCBI36
NG_008935.1:g.4735_4862del , LRG_287:g.4735_4862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+17_23+144del	ENSP00000434560.2:n.23+17_23+144del
ENST00000496887.6:c.23+17_23+144del	ENSP00000434560.1:n.23+17_23+144del