Canonical Allele Identifier: CA1948309954

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768856C= , CM000673.2:g.2768856C=	GRCh38
NC_000011.9:g.2790086C= , CM000673.1:g.2790086C=	GRCh37
NC_000011.8:g.2746662C=	NCBI36
NG_008935.1:g.328866C= , LRG_287:g.328866C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1170C=	ENSP00000434560.2:p.His390=
ENST00000646564.2:c.987C=	ENSP00000495806.2:p.His329=
ENST00000155840.12:c.1527C= MANE Select	ENSP00000155840.2:p.His509=
ENST00000335475.6:c.1146C=	ENSP00000334497.5:p.His382=
ENST00000646564.1:c.633C=	ENSP00000495806.1:p.His211=
ENST00000155840.9:c.1527C=	ENSP00000155840.2:p.His509=
ENST00000335475.5:c.1146C=	ENSP00000334497.5:p.His382=
NM_000218.2:c.1527C= , LRG_287t1:c.1527C=	NP_000209.2:p.His509=
NM_181798.1:c.1146C= , LRG_287t2:c.1146C=	NP_861463.1:p.His382=
NM_000218.3:c.1527C= MANE Select	NP_000209.2:p.His509=