Canonical Allele Identifier: CA1948236406

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588851T= , CM000673.2:g.2588851T=	GRCh38
NC_000011.9:g.2610081T= , CM000673.1:g.2610081T=	GRCh37
NC_000011.8:g.2566657T=	NCBI36
NG_008935.1:g.148861T= , LRG_287:g.148861T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1033T=	ENSP00000434560.2:p.Ser345=
ENST00000646564.2:c.850T=	ENSP00000495806.2:p.Ser284=
ENST00000155840.12:c.1390T= MANE Select	ENSP00000155840.2:p.Ser464=
ENST00000335475.6:c.1009T=	ENSP00000334497.5:p.Ser337=
ENST00000646564.1:c.496T=	ENSP00000495806.1:p.Ser166=
ENST00000155840.9:c.1390T=	ENSP00000155840.2:p.Ser464=
ENST00000335475.5:c.1009T=	ENSP00000334497.5:p.Ser337=
NM_000218.2:c.1390T= , LRG_287t1:c.1390T=	NP_000209.2:p.Ser464=
NM_181798.1:c.1009T= , LRG_287t2:c.1009T=	NP_861463.1:p.Ser337=
NM_000218.3:c.1390T= MANE Select	NP_000209.2:p.Ser464=