Canonical Allele Identifier: CA597098468

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1319270342
• gnomAD v2: 11-2466103-CGGCGGGGGCGGGGCGTGCA-C
• gnomAD v3: 11-2444873-CGGCGGGGGCGGGGCGTGCA-C
• gnomAD v4: 11-2444873-CGGCGGGGGCGGGGCGTGCA-C
• MyVariant Identifiers: chr11:g.2466104_2466122del (hg19) ; chr11:g.2444874_2444892del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444888_2444906del , CM000673.2:g.2444888_2444906del	GRCh38
NC_000011.9:g.2466118_2466136del , CM000673.1:g.2466118_2466136del	GRCh37
NC_000011.8:g.2422694_2422712del	NCBI36
NG_008935.1:g.4898_4916del , LRG_287:g.4898_4916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+180_23+198del	ENSP00000434560.2:n.23+180_23+198del
ENST00000496887.6:c.23+180_23+198del	ENSP00000434560.1:n.23+180_23+198del