Canonical Allele Identifier: CA934452268

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1846307939
• gnomAD v3: 11-2463480-CTG-C
• gnomAD v4: 11-2463480-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2463482_2463483del , CM000673.2:g.2463482_2463483del	GRCh38
NC_000011.9:g.2484712_2484713del , CM000673.1:g.2484712_2484713del	GRCh37
NC_000011.8:g.2441288_2441289del	NCBI36
NG_008935.1:g.23492_23493del , LRG_287:g.23492_23493del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380776.5:n.91+1505_91+1506del
ENST00000496887.7:c.125+17998_125+17999del	ENSP00000434560.2:n.125+17998_125+17999de...
ENST00000646564.2:c.386+17998_386+17999del	ENSP00000495806.2:n.386+17998_386+17999de...
ENST00000155840.12:c.386+17998_386+17999del MANE Select	ENSP00000155840.2:n.386+17998_386+17999de...
ENST00000335475.6:c.5+1768_5+1769del	ENSP00000334497.5:n.5+1768_5+1769del
ENST00000646564.1:c.32+17998_32+17999del	ENSP00000495806.1:n.32+17998_32+17999del
ENST00000155840.9:c.386+17998_386+17999del	ENSP00000155840.2:n.386+17998_386+17999de...
ENST00000335475.5:c.5+1768_5+1769del	ENSP00000334497.5:n.5+1768_5+1769del
ENST00000345015.4:n.163+17998_163+17999del
ENST00000380776.4:c.84+1505_84+1506del	ENSP00000370153.4:n.84+1505_84+1506del
ENST00000496887.6:c.125+17998_125+17999del	ENSP00000434560.1:n.125+17998_125+17999de...
NM_000218.2:c.386+17998_386+17999del , LRG_287t1:c.386+17998_386+17999del	NP_000209.2:n.386+17998_386+17999del
NM_181798.1:c.5+1768_5+1769del , LRG_287t2:c.5+1768_5+1769del	NP_861463.1:n.5+1768_5+1769del
NM_000218.3:c.386+17998_386+17999del MANE Select	NP_000209.2:n.386+17998_386+17999del