Canonical Allele Identifier: CA1948161023

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445442A= , CM000673.2:g.2445442A=	GRCh38
NC_000011.9:g.2466672A= , CM000673.1:g.2466672A=	GRCh37
NC_000011.8:g.2423248A=	NCBI36
NG_008935.1:g.5452A= , LRG_287:g.5452A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.83A=	ENSP00000434560.2:p.Glu28=
ENST00000646564.2:c.344A=	ENSP00000495806.2:p.Glu115=
ENST00000155840.12:c.344A= MANE Select	ENSP00000155840.2:p.Glu115=
ENST00000155840.9:c.344A=	ENSP00000155840.2:p.Glu115=
ENST00000345015.4:n.121A=
ENST00000496887.6:c.83A=	ENSP00000434560.1:p.Glu28=
NM_000218.2:c.344A= , LRG_287t1:c.344A=	NP_000209.2:p.Glu115=
NM_000218.3:c.344A= MANE Select	NP_000209.2:p.Glu115=