Canonical Allele Identifier: CA1948212135

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572935G= , CM000673.2:g.2572935G=	GRCh38
NC_000011.9:g.2594165G= , CM000673.1:g.2594165G=	GRCh37
NC_000011.8:g.2550741G=	NCBI36
NG_008935.1:g.132945G= , LRG_287:g.132945G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.609G=	ENSP00000434560.2:p.Glu203=
ENST00000646564.2:c.478-10500G=	ENSP00000495806.2:n.478-10500G=
ENST00000155840.12:c.870G= MANE Select	ENSP00000155840.2:p.Glu290=
ENST00000335475.6:c.489G=	ENSP00000334497.5:p.Glu163=
ENST00000646564.1:c.124-10500G=	ENSP00000495806.1:n.124-10500G=
ENST00000155840.9:c.870G=	ENSP00000155840.2:p.Glu290=
ENST00000335475.5:c.489G=	ENSP00000334497.5:p.Glu163=
NM_000218.2:c.870G= , LRG_287t1:c.870G=	NP_000209.2:p.Glu290=
NM_181798.1:c.489G= , LRG_287t2:c.489G=	NP_861463.1:p.Glu163=
NM_000218.3:c.870G= MANE Select	NP_000209.2:p.Glu290=