Canonical Allele Identifier: CA597098432

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1378229002
• gnomAD v2: 11-2465940-TGGGCTCGGGCGGGGGTGGGGGTGGGGGCGG-T
• gnomAD v3: 11-2444710-TGGGCTCGGGCGGGGGTGGGGGTGGGGGCGG-T
• gnomAD v4: 11-2444710-TGGGCTCGGGCGGGGGTGGGGGTGGGGGCGG-T
• MyVariant Identifiers: chr11:g.2465941_2465970del (hg19) ; chr11:g.2444711_2444740del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444715_2444744del , CM000673.2:g.2444715_2444744del	GRCh38
NC_000011.9:g.2465945_2465974del , CM000673.1:g.2465945_2465974del	GRCh37
NC_000011.8:g.2422521_2422550del	NCBI36
NG_008935.1:g.4725_4754del , LRG_287:g.4725_4754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+7_23+36del	ENSP00000434560.2:n.23+7_23+36del
ENST00000496887.6:c.23+7_23+36del	ENSP00000434560.1:n.23+7_23+36del