Canonical Allele Identifier: CA1948314068

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776044C= , CM000673.2:g.2776044C=	GRCh38
NC_000011.9:g.2797274C= , CM000673.1:g.2797274C=	GRCh37
NC_000011.8:g.2753850C=	NCBI36
NG_008935.1:g.336054C= , LRG_287:g.336054C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1318C=	ENSP00000434560.2:p.Leu440=
ENST00000646564.2:c.1135C=	ENSP00000495806.2:p.Leu379=
ENST00000155840.12:c.1675C= MANE Select	ENSP00000155840.2:p.Leu559=
ENST00000335475.6:c.1294C=	ENSP00000334497.5:p.Leu432=
ENST00000646564.1:c.781C=	ENSP00000495806.1:p.Leu261=
ENST00000155840.9:c.1675C=	ENSP00000155840.2:p.Leu559=
ENST00000335475.5:c.1294C=	ENSP00000334497.5:p.Leu432=
NM_000218.2:c.1675C= , LRG_287t1:c.1675C=	NP_000209.2:p.Leu559=
NM_181798.1:c.1294C= , LRG_287t2:c.1294C=	NP_861463.1:p.Leu432=
NM_000218.3:c.1675C= MANE Select	NP_000209.2:p.Leu559=