Canonical Allele Identifier: CA597098446

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1333850329
• gnomAD v2: 11-2465971-GGGCGCA-G
• gnomAD v3: 11-2444741-GGGCGCA-G
• gnomAD v4: 11-2444741-GGGCGCA-G
• MyVariant Identifiers: chr11:g.2465972_2465977del (hg19) ; chr11:g.2444742_2444747del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444746_2444751del , CM000673.2:g.2444746_2444751del	GRCh38
NC_000011.9:g.2465976_2465981del , CM000673.1:g.2465976_2465981del	GRCh37
NC_000011.8:g.2422552_2422557del	NCBI36
NG_008935.1:g.4756_4761del , LRG_287:g.4756_4761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+38_23+43del	ENSP00000434560.2:n.23+38_23+43del
ENST00000496887.6:c.23+38_23+43del	ENSP00000434560.1:n.23+38_23+43del