Canonical Allele Identifier: CA1948235629

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588775C= , CM000673.2:g.2588775C=	GRCh38
NC_000011.9:g.2610005C= , CM000673.1:g.2610005C=	GRCh37
NC_000011.8:g.2566581C=	NCBI36
NG_008935.1:g.148785C= , LRG_287:g.148785C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.957C=	ENSP00000434560.2:p.Leu319=
ENST00000646564.2:c.774C=	ENSP00000495806.2:p.Leu258=
ENST00000155840.12:c.1314C= MANE Select	ENSP00000155840.2:p.Leu438=
ENST00000335475.6:c.933C=	ENSP00000334497.5:p.Leu311=
ENST00000646564.1:c.420C=	ENSP00000495806.1:p.Leu140=
ENST00000155840.9:c.1314C=	ENSP00000155840.2:p.Leu438=
ENST00000335475.5:c.933C=	ENSP00000334497.5:p.Leu311=
NM_000218.2:c.1314C= , LRG_287t1:c.1314C=	NP_000209.2:p.Leu438=
NM_181798.1:c.933C= , LRG_287t2:c.933C=	NP_861463.1:p.Leu311=
NM_000218.3:c.1314C= MANE Select	NP_000209.2:p.Leu438=