Canonical Allele Identifier: CA1948242702

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572048A= , CM000673.2:g.2572048A=	GRCh38
NC_000011.9:g.2593278A= , CM000673.1:g.2593278A=	GRCh37
NC_000011.8:g.2549854A=	NCBI36
NG_008935.1:g.132058A= , LRG_287:g.132058A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.458A=	ENSP00000434560.2:p.His153=
ENST00000646564.2:c.478-11387A=	ENSP00000495806.2:n.478-11387A=
ENST00000155840.12:c.719A= MANE Select	ENSP00000155840.2:p.His240=
ENST00000335475.6:c.338A=	ENSP00000334497.5:p.His113=
ENST00000646564.1:c.124-11387A=	ENSP00000495806.1:n.124-11387A=
ENST00000155840.9:c.719A=	ENSP00000155840.2:p.His240=
ENST00000335475.5:c.338A=	ENSP00000334497.5:p.His113=
ENST00000496887.6:c.458A=	ENSP00000434560.1:p.His153=
NM_000218.2:c.719A= , LRG_287t1:c.719A=	NP_000209.2:p.His240=
NM_181798.1:c.338A= , LRG_287t2:c.338A=	NP_861463.1:p.His113=
NM_000218.3:c.719A= MANE Select	NP_000209.2:p.His240=