Canonical Allele Identifier: CA1948314045

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776007G= , CM000673.2:g.2776007G=	GRCh38
NC_000011.9:g.2797237G= , CM000673.1:g.2797237G=	GRCh37
NC_000011.8:g.2753813G=	NCBI36
NG_008935.1:g.336017G= , LRG_287:g.336017G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1638G= MANE Select	NP_000209.2:p.Ser546=
ENST00000155840.12:c.1638G= MANE Select	ENSP00000155840.2:p.Ser546=
NM_000218.2:c.1638G= , LRG_287t1:c.1638G=	NP_000209.2:p.Ser546=
NM_181798.1:c.1257G= , LRG_287t2:c.1257G=	NP_861463.1:p.Ser419=
ENST00000155840.9:c.1638G=	ENSP00000155840.2:p.Ser546=
ENST00000335475.5:c.1257G=	ENSP00000334497.5:p.Ser419=
ENST00000335475.6:c.1257G=	ENSP00000334497.5:p.Ser419=
ENST00000496887.7:c.1281G=	ENSP00000434560.2:p.Ser427=
ENST00000646564.1:c.744G=	ENSP00000495806.1:p.Ser248=
ENST00000646564.2:c.1098G=	ENSP00000495806.2:p.Ser366=