Canonical Allele Identifier: CA1948314557

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776997C= , CM000673.2:g.2776997C=	GRCh38
NC_000011.9:g.2798227C= , CM000673.1:g.2798227C=	GRCh37
NC_000011.8:g.2754803C=	NCBI36
NG_008935.1:g.337007C= , LRG_287:g.337007C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1340C=	ENSP00000434560.2:p.Ser447=
ENST00000646564.2:c.1157C=	ENSP00000495806.2:p.Ser386=
ENST00000155840.12:c.1697C= MANE Select	ENSP00000155840.2:p.Ser566=
ENST00000335475.6:c.1316C=	ENSP00000334497.5:p.Ser439=
ENST00000646564.1:c.803C=	ENSP00000495806.1:p.Ser268=
ENST00000155840.9:c.1697C=	ENSP00000155840.2:p.Ser566=
ENST00000335475.5:c.1316C=	ENSP00000334497.5:p.Ser439=
NM_000218.2:c.1697C= , LRG_287t1:c.1697C=	NP_000209.2:p.Ser566=
NM_181798.1:c.1316C= , LRG_287t2:c.1316C=	NP_861463.1:p.Ser439=
NM_000218.3:c.1697C= MANE Select	NP_000209.2:p.Ser566=