Canonical Allele Identifier: CA1948242593

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572019C= , CM000673.2:g.2572019C=	GRCh38
NC_000011.9:g.2593249C= , CM000673.1:g.2593249C=	GRCh37
NC_000011.8:g.2549825C=	NCBI36
NG_008935.1:g.132029C= , LRG_287:g.132029C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.429C=	ENSP00000434560.2:p.Ile143=
ENST00000646564.2:c.478-11416C=	ENSP00000495806.2:n.478-11416C=
ENST00000155840.12:c.690C= MANE Select	ENSP00000155840.2:p.Ile230=
ENST00000335475.6:c.309C=	ENSP00000334497.5:p.Ile103=
ENST00000646564.1:c.124-11416C=	ENSP00000495806.1:n.124-11416C=
ENST00000155840.9:c.690C=	ENSP00000155840.2:p.Ile230=
ENST00000335475.5:c.309C=	ENSP00000334497.5:p.Ile103=
ENST00000496887.6:c.429C=	ENSP00000434560.1:p.Ile143=
NM_000218.2:c.690C= , LRG_287t1:c.690C=	NP_000209.2:p.Ile230=
NM_181798.1:c.309C= , LRG_287t2:c.309C=	NP_861463.1:p.Ile103=
NM_000218.3:c.690C= MANE Select	NP_000209.2:p.Ile230=