Canonical Allele Identifier: CA674857772

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1319270342
• gnomAD v3: 11-2444873-C-CGGCGGGGGCGGGGCGTGCA
• gnomAD v4: 11-2444873-C-CGGCGGGGGCGGGGCGTGCA
• MyVariant Identifiers: chr11:g.2466103_2466104insGGCGGGGGCGGGGCGTGCA (hg19) ; chr11:g.2444873_2444874insGGCGGGGGCGGGGCGTGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444888_2444906dup , CM000673.2:g.2444888_2444906dup	GRCh38
NC_000011.9:g.2466118_2466136dup , CM000673.1:g.2466118_2466136dup	GRCh37
NC_000011.8:g.2422694_2422712dup	NCBI36
NG_008935.1:g.4898_4916dup , LRG_287:g.4898_4916dup

Transcript Alleles

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