Canonical Allele Identifier: CA1948242703

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572049C= , CM000673.2:g.2572049C=	GRCh38
NC_000011.9:g.2593279C= , CM000673.1:g.2593279C=	GRCh37
NC_000011.8:g.2549855C=	NCBI36
NG_008935.1:g.132059C= , LRG_287:g.132059C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.459C=	ENSP00000434560.2:p.His153=
ENST00000646564.2:c.478-11386C=	ENSP00000495806.2:n.478-11386C=
ENST00000155840.12:c.720C= MANE Select	ENSP00000155840.2:p.His240=
ENST00000335475.6:c.339C=	ENSP00000334497.5:p.His113=
ENST00000646564.1:c.124-11386C=	ENSP00000495806.1:n.124-11386C=
ENST00000155840.9:c.720C=	ENSP00000155840.2:p.His240=
ENST00000335475.5:c.339C=	ENSP00000334497.5:p.His113=
ENST00000496887.6:c.459C=	ENSP00000434560.1:p.His153=
NM_000218.2:c.720C= , LRG_287t1:c.720C=	NP_000209.2:p.His240=
NM_181798.1:c.339C= , LRG_287t2:c.339C=	NP_861463.1:p.His113=
NM_000218.3:c.720C= MANE Select	NP_000209.2:p.His240=