Canonical Allele Identifier: CA3182733359

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587590T= , CM000673.2:g.2587590T=	GRCh38
NC_000011.9:g.2608820T= , CM000673.1:g.2608820T=	GRCh37
NC_000011.8:g.2565396T=	NCBI36
NG_008935.1:g.147600T= , LRG_287:g.147600T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1149T= MANE Select	NP_000209.2:p.Ala383=
ENST00000155840.12:c.1149T= MANE Select	ENSP00000155840.2:p.Ala383=
NM_000218.2:c.1149T= , LRG_287t1:c.1149T=	NP_000209.2:p.Ala383=
NM_181798.1:c.768T= , LRG_287t2:c.768T=	NP_861463.1:p.Ala256=
ENST00000155840.9:c.1149T=	ENSP00000155840.2:p.Ala383=
ENST00000335475.5:c.768T=	ENSP00000334497.5:p.Ala256=
ENST00000335475.6:c.768T=	ENSP00000334497.5:p.Ala256=
ENST00000496887.7:c.792T=	ENSP00000434560.2:p.Ala264=
ENST00000646564.1:c.255T=	ENSP00000495806.1:p.Ala85=
ENST00000646564.2:c.609T=	ENSP00000495806.2:p.Ala203=