Canonical Allele Identifier: CA1948242732

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572086T= , CM000673.2:g.2572086T=	GRCh38
NC_000011.9:g.2593316T= , CM000673.1:g.2593316T=	GRCh37
NC_000011.8:g.2549892T=	NCBI36
NG_008935.1:g.132096T= , LRG_287:g.132096T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.496T=	ENSP00000434560.2:p.Ser166=
ENST00000646564.2:c.478-11349T=	ENSP00000495806.2:n.478-11349T=
ENST00000155840.12:c.757T= MANE Select	ENSP00000155840.2:p.Ser253=
ENST00000335475.6:c.376T=	ENSP00000334497.5:p.Ser126=
ENST00000646564.1:c.124-11349T=	ENSP00000495806.1:n.124-11349T=
ENST00000155840.9:c.757T=	ENSP00000155840.2:p.Ser253=
ENST00000335475.5:c.376T=	ENSP00000334497.5:p.Ser126=
ENST00000496887.6:c.496T=	ENSP00000434560.1:p.Ser166=
NM_000218.2:c.757T= , LRG_287t1:c.757T=	NP_000209.2:p.Ser253=
NM_181798.1:c.376T= , LRG_287t2:c.376T=	NP_861463.1:p.Ser126=
NM_000218.3:c.757T= MANE Select	NP_000209.2:p.Ser253=