Canonical Allele Identifier: CA1948240058

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570738G= , CM000673.2:g.2570738G=	GRCh38
NC_000011.9:g.2591968G= , CM000673.1:g.2591968G=	GRCh37
NC_000011.8:g.2548544G=	NCBI36
NG_008935.1:g.130748G= , LRG_287:g.130748G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.327G=	ENSP00000434560.2:p.Lys109=
ENST00000646564.2:c.478-12697G=	ENSP00000495806.2:n.478-12697G=
ENST00000155840.12:c.588G= MANE Select	ENSP00000155840.2:p.Lys196=
ENST00000335475.6:c.207G=	ENSP00000334497.5:p.Lys69=
ENST00000646564.1:c.124-12697G=	ENSP00000495806.1:n.124-12697G=
ENST00000155840.9:c.588G=	ENSP00000155840.2:p.Lys196=
ENST00000335475.5:c.207G=	ENSP00000334497.5:p.Lys69=
ENST00000496887.6:c.327G=	ENSP00000434560.1:p.Lys109=
NM_000218.2:c.588G= , LRG_287t1:c.588G=	NP_000209.2:p.Lys196=
NM_181798.1:c.207G= , LRG_287t2:c.207G=	NP_861463.1:p.Lys69=
NM_000218.3:c.588G= MANE Select	NP_000209.2:p.Lys196=