Canonical Allele Identifier: CA216292296

Gene: KCNQ1

Linked Data

• dbSNP Id: rs45513494
• gnomAD v2: 11-2465968-CG-C
• gnomAD v3: 11-2444738-CG-C
• gnomAD v4: 11-2444738-CG-C
• MyVariant Identifiers: chr11:g.2465969del (hg19) ; chr11:g.2444739del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444743del , CM000673.2:g.2444743del	GRCh38
NC_000011.9:g.2465973del , CM000673.1:g.2465973del	GRCh37
NC_000011.8:g.2422549del	NCBI36
NG_008935.1:g.4753del , LRG_287:g.4753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+35del	ENSP00000434560.2:n.23+35del
ENST00000496887.6:c.23+35del	ENSP00000434560.1:n.23+35del