Canonical Allele Identifier: CA1948242256

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571798G= , CM000673.2:g.2571798G=	GRCh38
NC_000011.9:g.2593028G= , CM000673.1:g.2593028G=	GRCh37
NC_000011.8:g.2549604G=	NCBI36
NG_008935.1:g.131808G= , LRG_287:g.131808G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.423-215G=	ENSP00000434560.2:n.423-215G=
ENST00000646564.2:c.478-11637G=	ENSP00000495806.2:n.478-11637G=
ENST00000155840.12:c.684-215G= MANE Select	ENSP00000155840.2:n.684-215G=
ENST00000335475.6:c.303-215G=	ENSP00000334497.5:n.303-215G=
ENST00000646564.1:c.124-11637G=	ENSP00000495806.1:n.124-11637G=
ENST00000155840.9:c.684-215G=	ENSP00000155840.2:n.684-215G=
ENST00000335475.5:c.303-215G=	ENSP00000334497.5:n.303-215G=
ENST00000496887.6:c.423-215G=	ENSP00000434560.1:n.423-215G=
NM_000218.2:c.684-215G= , LRG_287t1:c.684-215G=	NP_000209.2:n.684-215G=
NM_181798.1:c.303-215G= , LRG_287t2:c.303-215G=	NP_861463.1:n.303-215G=
NM_000218.3:c.684-215G= MANE Select	NP_000209.2:n.684-215G=