Canonical Allele Identifier: CA1948242614

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572021G= , CM000673.2:g.2572021G=	GRCh38
NC_000011.9:g.2593251G= , CM000673.1:g.2593251G=	GRCh37
NC_000011.8:g.2549827G=	NCBI36
NG_008935.1:g.132031G= , LRG_287:g.132031G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.431G=	ENSP00000434560.2:p.Arg144=
ENST00000646564.2:c.478-11414G=	ENSP00000495806.2:n.478-11414G=
ENST00000155840.12:c.692G= MANE Select	ENSP00000155840.2:p.Arg231=
ENST00000335475.6:c.311G=	ENSP00000334497.5:p.Arg104=
ENST00000646564.1:c.124-11414G=	ENSP00000495806.1:n.124-11414G=
ENST00000155840.9:c.692G=	ENSP00000155840.2:p.Arg231=
ENST00000335475.5:c.311G=	ENSP00000334497.5:p.Arg104=
ENST00000496887.6:c.431G=	ENSP00000434560.1:p.Arg144=
NM_000218.2:c.692G= , LRG_287t1:c.692G=	NP_000209.2:p.Arg231=
NM_181798.1:c.311G= , LRG_287t2:c.311G=	NP_861463.1:p.Arg104=
NM_000218.3:c.692G= MANE Select	NP_000209.2:p.Arg231=