Canonical Allele Identifier: CA1948236182

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588815_2588816delinsCG , CM000673.2:g.2588815_2588816delinsCG	GRCh38
NC_000011.9:g.2610045_2610046delinsCG , CM000673.1:g.2610045_2610046delinsCG	GRCh37
NC_000011.8:g.2566621_2566622delinsCG	NCBI36
NG_008935.1:g.148825_148826delinsCG , LRG_287:g.148825_148826delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.997_998delinsCG	ENSP00000434560.2:p.Arg333=
ENST00000646564.2:c.814_815delinsCG	ENSP00000495806.2:p.Arg272=
ENST00000155840.12:c.1354_1355delinsCG MANE Select	ENSP00000155840.2:p.Arg452=
ENST00000335475.6:c.973_974delinsCG	ENSP00000334497.5:p.Arg325=
ENST00000646564.1:c.460_461delinsCG	ENSP00000495806.1:p.Arg154=
ENST00000155840.9:c.1354_1355delinsCG	ENSP00000155840.2:p.Arg452=
ENST00000335475.5:c.973_974delinsCG	ENSP00000334497.5:p.Arg325=
NM_000218.2:c.1354_1355delinsCG , LRG_287t1:c.1354_1355delinsCG	NP_000209.2:p.Arg452=
NM_181798.1:c.973_974delinsCG , LRG_287t2:c.973_974delinsCG	NP_861463.1:p.Arg325=
NM_000218.3:c.1354_1355delinsCG MANE Select	NP_000209.2:p.Arg452=