Canonical Allele Identifier: CA2573146072

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1426804
• ClinVar RCV Id: RCV001929608 ; RCV003591903
• dbSNP Id: rs2133760795

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588815del , CM000673.2:g.2588815del	GRCh38
NC_000011.9:g.2610045del , CM000673.1:g.2610045del	GRCh37
NC_000011.8:g.2566621del	NCBI36
NG_008935.1:g.148825del , LRG_287:g.148825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.997del	ENSP00000434560.2:p.Arg333GlyfsTer14
ENST00000646564.2:c.814del	ENSP00000495806.2:p.Arg272GlyfsTer14
ENST00000155840.12:c.1354del MANE Select	ENSP00000155840.2:p.Arg452GlyfsTer14
ENST00000335475.6:c.973del	ENSP00000334497.5:p.Arg325GlyfsTer14
ENST00000646564.1:c.460del	ENSP00000495806.1:p.Arg154GlyfsTer14
ENST00000155840.9:c.1354del	ENSP00000155840.2:p.Arg452GlyfsTer14
ENST00000335475.5:c.973del	ENSP00000334497.5:p.Arg325GlyfsTer14
NM_000218.2:c.1354del , LRG_287t1:c.1354del	NP_000209.2:p.Arg452GlyfsTer14
NM_181798.1:c.973del , LRG_287t2:c.973del	NP_861463.1:p.Arg325GlyfsTer14
NM_000218.3:c.1354del MANE Select	NP_000209.2:p.Arg452GlyfsTer14