Canonical Allele Identifier: CA934454725

Gene: KCNQ1

Linked Data

• gnomAD v3: 11-2444769-AGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCG-A
• gnomAD v4: 11-2444769-AGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444779_2444835del , CM000673.2:g.2444779_2444835del	GRCh38
NC_000011.9:g.2466009_2466065del , CM000673.1:g.2466009_2466065del	GRCh37
NC_000011.8:g.2422585_2422641del	NCBI36
NG_008935.1:g.4789_4845del , LRG_287:g.4789_4845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+71_23+127del	ENSP00000434560.2:n.23+71_23+127del
ENST00000496887.6:c.23+71_23+127del	ENSP00000434560.1:n.23+71_23+127del