Canonical Allele Identifier: CA1948242742

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572101C= , CM000673.2:g.2572101C=	GRCh38
NC_000011.9:g.2593331C= , CM000673.1:g.2593331C=	GRCh37
NC_000011.8:g.2549907C=	NCBI36
NG_008935.1:g.132111C= , LRG_287:g.132111C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.511C=	ENSP00000434560.2:p.His171=
ENST00000646564.2:c.478-11334C=	ENSP00000495806.2:n.478-11334C=
ENST00000155840.12:c.772C= MANE Select	ENSP00000155840.2:p.His258=
ENST00000335475.6:c.391C=	ENSP00000334497.5:p.His131=
ENST00000646564.1:c.124-11334C=	ENSP00000495806.1:n.124-11334C=
ENST00000155840.9:c.772C=	ENSP00000155840.2:p.His258=
ENST00000335475.5:c.391C=	ENSP00000334497.5:p.His131=
ENST00000496887.6:c.511C=	ENSP00000434560.1:p.His171=
NM_000218.2:c.772C= , LRG_287t1:c.772C=	NP_000209.2:p.His258=
NM_181798.1:c.391C= , LRG_287t2:c.391C=	NP_861463.1:p.His131=
NM_000218.3:c.772C= MANE Select	NP_000209.2:p.His258=