Canonical Allele Identifier: CA1948310093

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768917C= , CM000673.2:g.2768917C=	GRCh38
NC_000011.9:g.2790147C= , CM000673.1:g.2790147C=	GRCh37
NC_000011.8:g.2746723C=	NCBI36
NG_008935.1:g.328927C= , LRG_287:g.328927C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1231C=	ENSP00000434560.2:p.Gln411=
ENST00000646564.2:c.1048C=	ENSP00000495806.2:p.Gln350=
ENST00000155840.12:c.1588C= MANE Select	ENSP00000155840.2:p.Gln530=
ENST00000335475.6:c.1207C=	ENSP00000334497.5:p.Gln403=
ENST00000646564.1:c.694C=	ENSP00000495806.1:p.Gln232=
ENST00000155840.9:c.1588C=	ENSP00000155840.2:p.Gln530=
ENST00000335475.5:c.1207C=	ENSP00000334497.5:p.Gln403=
NM_000218.2:c.1588C= , LRG_287t1:c.1588C=	NP_000209.2:p.Gln530=
NM_181798.1:c.1207C= , LRG_287t2:c.1207C=	NP_861463.1:p.Gln403=
NM_000218.3:c.1588C= MANE Select	NP_000209.2:p.Gln530=