Canonical Allele Identifier: CA2574728110

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527930del , CM000673.2:g.2527930del	GRCh38
NC_000011.9:g.2549160del , CM000673.1:g.2549160del	GRCh37
NC_000011.8:g.2505736del	NCBI36
NG_008935.1:g.87940del , LRG_287:g.87940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.186del
ENST00000496887.7:c.128del	ENSP00000434560.2:p.Phe43SerfsTer?
ENST00000646564.2:c.389del	ENSP00000495806.2:p.Phe130SerfsTer?
ENST00000155840.12:c.389del MANE Select	ENSP00000155840.2:p.Phe130SerfsTer?
ENST00000335475.6:c.8del	ENSP00000334497.5:p.Phe3SerfsTer?
ENST00000646564.1:c.35del	ENSP00000495806.1:p.Phe12SerfsTer?
ENST00000155840.9:c.389del	ENSP00000155840.2:p.Phe130SerfsTer?
ENST00000335475.5:c.8del	ENSP00000334497.5:p.Phe3SerfsTer?
ENST00000345015.4:n.258del
ENST00000380776.4:c.179del	ENSP00000370153.4:p.Phe60SerfsTer?
ENST00000496887.6:c.128del	ENSP00000434560.1:p.Phe43SerfsTer?
NM_000218.2:c.389del , LRG_287t1:c.389del	NP_000209.2:p.Phe130SerfsTer?
NM_181798.1:c.8del , LRG_287t2:c.8del	NP_861463.1:p.Phe3SerfsTer?
NM_000218.3:c.389del MANE Select	NP_000209.2:p.Phe130SerfsTer?