Canonical Allele Identifier: CA1948161024

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445443G= , CM000673.2:g.2445443G=	GRCh38
NC_000011.9:g.2466673G= , CM000673.1:g.2466673G=	GRCh37
NC_000011.8:g.2423249G=	NCBI36
NG_008935.1:g.5453G= , LRG_287:g.5453G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.84G=	ENSP00000434560.2:p.Glu28=
ENST00000646564.2:c.345G=	ENSP00000495806.2:p.Glu115=
ENST00000155840.12:c.345G= MANE Select	ENSP00000155840.2:p.Glu115=
ENST00000155840.9:c.345G=	ENSP00000155840.2:p.Glu115=
ENST00000345015.4:n.122G=
ENST00000496887.6:c.84G=	ENSP00000434560.1:p.Glu28=
NM_000218.2:c.345G= , LRG_287t1:c.345G=	NP_000209.2:p.Glu115=
NM_000218.3:c.345G= MANE Select	NP_000209.2:p.Glu115=