Canonical Allele Identifier: CA1948242585

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572013G= , CM000673.2:g.2572013G=	GRCh38
NC_000011.9:g.2593243G= , CM000673.1:g.2593243G=	GRCh37
NC_000011.8:g.2549819G=	NCBI36
NG_008935.1:g.132023G= , LRG_287:g.132023G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.423G=	ENSP00000434560.2:p.Arg141=
ENST00000646564.2:c.478-11422G=	ENSP00000495806.2:n.478-11422G=
ENST00000155840.12:c.684G= MANE Select	ENSP00000155840.2:p.Arg228=
ENST00000335475.6:c.303G=	ENSP00000334497.5:p.Arg101=
ENST00000646564.1:c.124-11422G=	ENSP00000495806.1:n.124-11422G=
ENST00000155840.9:c.684G=	ENSP00000155840.2:p.Arg228=
ENST00000335475.5:c.303G=	ENSP00000334497.5:p.Arg101=
ENST00000496887.6:c.423G=	ENSP00000434560.1:p.Arg141=
NM_000218.2:c.684G= , LRG_287t1:c.684G=	NP_000209.2:p.Arg228=
NM_181798.1:c.303G= , LRG_287t2:c.303G=	NP_861463.1:p.Arg101=
NM_000218.3:c.684G= MANE Select	NP_000209.2:p.Arg228=