Canonical Allele Identifier: CA674982939

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1327530295
• gnomAD v4: 11-2583365-TG-T
• MyVariant Identifiers: chr11:g.2604596del (hg19) ; chr11:g.2583366del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583368del , CM000673.2:g.2583368del	GRCh38
NC_000011.9:g.2604598del , CM000673.1:g.2604598del	GRCh37
NC_000011.8:g.2561174del	NCBI36
NG_008935.1:g.143378del , LRG_287:g.143378del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.661-67del	ENSP00000434560.2:n.661-67del
ENST00000646564.2:c.478-67del	ENSP00000495806.2:n.478-67del
ENST00000155840.12:c.922-67del MANE Select	ENSP00000155840.2:n.922-67del
ENST00000335475.6:c.541-67del	ENSP00000334497.5:n.541-67del
ENST00000646564.1:c.124-67del	ENSP00000495806.1:n.124-67del
ENST00000155840.9:c.922-67del	ENSP00000155840.2:n.922-67del
ENST00000335475.5:c.541-67del	ENSP00000334497.5:n.541-67del
NM_000218.2:c.922-67del , LRG_287t1:c.922-67del	NP_000209.2:n.922-67del
NM_181798.1:c.541-67del , LRG_287t2:c.541-67del	NP_861463.1:n.541-67del
NM_000218.3:c.922-67del MANE Select	NP_000209.2:n.922-67del