Canonical Allele Identifier: CA934455018

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1846010910
• gnomAD v3: 11-2444976-CGGCAGCGGCCCCCCGCGGCGGGGCT-C
• gnomAD v4: 11-2444976-CGGCAGCGGCCCCCCGCGGCGGGGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444983_2445007del , CM000673.2:g.2444983_2445007del	GRCh38
NC_000011.9:g.2466213_2466237del , CM000673.1:g.2466213_2466237del	GRCh37
NC_000011.8:g.2422789_2422813del	NCBI36
NG_008935.1:g.4993_5017del , LRG_287:g.4993_5017del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+275_23+299del	ENSP00000434560.2:n.23+275_23+299del
ENST00000496887.6:c.23+275_23+299del	ENSP00000434560.1:n.23+275_23+299del