Canonical Allele Identifier: CA1948236368

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588845G= , CM000673.2:g.2588845G=	GRCh38
NC_000011.9:g.2610075G= , CM000673.1:g.2610075G=	GRCh37
NC_000011.8:g.2566651G=	NCBI36
NG_008935.1:g.148855G= , LRG_287:g.148855G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1027G=	ENSP00000434560.2:p.Asp343=
ENST00000646564.2:c.844G=	ENSP00000495806.2:p.Asp282=
ENST00000155840.12:c.1384G= MANE Select	ENSP00000155840.2:p.Asp462=
ENST00000335475.6:c.1003G=	ENSP00000334497.5:p.Asp335=
ENST00000646564.1:c.490G=	ENSP00000495806.1:p.Asp164=
ENST00000155840.9:c.1384G=	ENSP00000155840.2:p.Asp462=
ENST00000335475.5:c.1003G=	ENSP00000334497.5:p.Asp335=
NM_000218.2:c.1384G= , LRG_287t1:c.1384G=	NP_000209.2:p.Asp462=
NM_181798.1:c.1003G= , LRG_287t2:c.1003G=	NP_861463.1:p.Asp335=
NM_000218.3:c.1384G= MANE Select	NP_000209.2:p.Asp462=