Canonical Allele Identifier: CA1948315105

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778005A= , CM000673.2:g.2778005A=	GRCh38
NC_000011.9:g.2799235A= , CM000673.1:g.2799235A=	GRCh37
NC_000011.8:g.2755811A=	NCBI36
NG_008935.1:g.338015A= , LRG_287:g.338015A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1762A= MANE Select	NP_000209.2:p.Ile588=
ENST00000155840.12:c.1762A= MANE Select	ENSP00000155840.2:p.Ile588=
NM_000218.2:c.1762A= , LRG_287t1:c.1762A=	NP_000209.2:p.Ile588=
NM_181798.1:c.1381A= , LRG_287t2:c.1381A=	NP_861463.1:p.Ile461=
ENST00000155840.9:c.1762A=	ENSP00000155840.2:p.Ile588=
ENST00000335475.5:c.1381A=	ENSP00000334497.5:p.Ile461=
ENST00000335475.6:c.1381A=	ENSP00000334497.5:p.Ile461=
ENST00000496887.7:c.1405A=	ENSP00000434560.2:p.Ile469=
ENST00000526095.1:n.269A=
ENST00000526095.2:c.166A=	ENSP00000494939.1:p.Ile56=
ENST00000646564.1:c.868A=	ENSP00000495806.1:p.Ile290=
ENST00000646564.2:c.1222A=	ENSP00000495806.2:p.Ile408=