Canonical Allele Identifier: CA597098442

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1294492733
• gnomAD v2: 11-2465962-TGGGGGCGGGGGCGCAGGCGGGGGC-T
• gnomAD v3: 11-2444732-TGGGGGCGGGGGCGCAGGCGGGGGC-T
• gnomAD v4: 11-2444732-TGGGGGCGGGGGCGCAGGCGGGGGC-T
• MyVariant Identifiers: chr11:g.2465963_2465986del (hg19) ; chr11:g.2444733_2444756del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444740_2444763del , CM000673.2:g.2444740_2444763del	GRCh38
NC_000011.9:g.2465970_2465993del , CM000673.1:g.2465970_2465993del	GRCh37
NC_000011.8:g.2422546_2422569del	NCBI36
NG_008935.1:g.4750_4773del , LRG_287:g.4750_4773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+32_23+55del	ENSP00000434560.2:n.23+32_23+55del
ENST00000496887.6:c.23+32_23+55del	ENSP00000434560.1:n.23+32_23+55del