Canonical Allele Identifier: CA1948310035

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768884C= , CM000673.2:g.2768884C=	GRCh38
NC_000011.9:g.2790114C= , CM000673.1:g.2790114C=	GRCh37
NC_000011.8:g.2746690C=	NCBI36
NG_008935.1:g.328894C= , LRG_287:g.328894C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1198C=	ENSP00000434560.2:p.Arg400=
ENST00000646564.2:c.1015C=	ENSP00000495806.2:p.Arg339=
ENST00000155840.12:c.1555C= MANE Select	ENSP00000155840.2:p.Arg519=
ENST00000335475.6:c.1174C=	ENSP00000334497.5:p.Arg392=
ENST00000646564.1:c.661C=	ENSP00000495806.1:p.Arg221=
ENST00000155840.9:c.1555C=	ENSP00000155840.2:p.Arg519=
ENST00000335475.5:c.1174C=	ENSP00000334497.5:p.Arg392=
NM_000218.2:c.1555C= , LRG_287t1:c.1555C=	NP_000209.2:p.Arg519=
NM_181798.1:c.1174C= , LRG_287t2:c.1174C=	NP_861463.1:p.Arg392=
NM_000218.3:c.1555C= MANE Select	NP_000209.2:p.Arg519=