Canonical Allele Identifier: CA1948242739

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572097C= , CM000673.2:g.2572097C=	GRCh38
NC_000011.9:g.2593327C= , CM000673.1:g.2593327C=	GRCh37
NC_000011.8:g.2549903C=	NCBI36
NG_008935.1:g.132107C= , LRG_287:g.132107C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.507C=	ENSP00000434560.2:p.Phe169=
ENST00000646564.2:c.478-11338C=	ENSP00000495806.2:n.478-11338C=
ENST00000155840.12:c.768C= MANE Select	ENSP00000155840.2:p.Phe256=
ENST00000335475.6:c.387C=	ENSP00000334497.5:p.Phe129=
ENST00000646564.1:c.124-11338C=	ENSP00000495806.1:n.124-11338C=
ENST00000155840.9:c.768C=	ENSP00000155840.2:p.Phe256=
ENST00000335475.5:c.387C=	ENSP00000334497.5:p.Phe129=
ENST00000496887.6:c.507C=	ENSP00000434560.1:p.Phe169=
NM_000218.2:c.768C= , LRG_287t1:c.768C=	NP_000209.2:p.Phe256=
NM_181798.1:c.387C= , LRG_287t2:c.387C=	NP_861463.1:p.Phe129=
NM_000218.3:c.768C= MANE Select	NP_000209.2:p.Phe256=