Canonical Allele Identifier: CA1948242712

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572058C= , CM000673.2:g.2572058C=	GRCh38
NC_000011.9:g.2593288C= , CM000673.1:g.2593288C=	GRCh37
NC_000011.8:g.2549864C=	NCBI36
NG_008935.1:g.132068C= , LRG_287:g.132068C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.468C=	ENSP00000434560.2:p.Arg156=
ENST00000646564.2:c.478-11377C=	ENSP00000495806.2:n.478-11377C=
ENST00000155840.12:c.729C= MANE Select	ENSP00000155840.2:p.Arg243=
ENST00000335475.6:c.348C=	ENSP00000334497.5:p.Arg116=
ENST00000646564.1:c.124-11377C=	ENSP00000495806.1:n.124-11377C=
ENST00000155840.9:c.729C=	ENSP00000155840.2:p.Arg243=
ENST00000335475.5:c.348C=	ENSP00000334497.5:p.Arg116=
ENST00000496887.6:c.468C=	ENSP00000434560.1:p.Arg156=
NM_000218.2:c.729C= , LRG_287t1:c.729C=	NP_000209.2:p.Arg243=
NM_181798.1:c.348C= , LRG_287t2:c.348C=	NP_861463.1:p.Arg116=
NM_000218.3:c.729C= MANE Select	NP_000209.2:p.Arg243=