Canonical Allele Identifier: CA1948196749

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527948G= , CM000673.2:g.2527948G=	GRCh38
NC_000011.9:g.2549178G= , CM000673.1:g.2549178G=	GRCh37
NC_000011.8:g.2505754G=	NCBI36
NG_008935.1:g.87958G= , LRG_287:g.87958G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.407G= MANE Select	NP_000209.2:p.Cys136=
ENST00000155840.12:c.407G= MANE Select	ENSP00000155840.2:p.Cys136=
NM_000218.2:c.407G= , LRG_287t1:c.407G=	NP_000209.2:p.Cys136=
NM_181798.1:c.26G= , LRG_287t2:c.26G=	NP_861463.1:p.Cys9=
ENST00000155840.9:c.407G=	ENSP00000155840.2:p.Cys136=
ENST00000335475.5:c.26G=	ENSP00000334497.5:p.Cys9=
ENST00000335475.6:c.26G=	ENSP00000334497.5:p.Cys9=
ENST00000345015.4:n.276G=
ENST00000380776.4:c.197G=	ENSP00000370153.4:p.Cys66=
ENST00000380776.5:n.204G=
ENST00000496887.6:c.146G=	ENSP00000434560.1:p.Cys49=
ENST00000496887.7:c.146G=	ENSP00000434560.2:p.Cys49=
ENST00000646564.1:c.53G=	ENSP00000495806.1:p.Cys18=
ENST00000646564.2:c.407G=	ENSP00000495806.2:p.Cys136=