Canonical Allele Identifier: CA1948236373

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588846A= , CM000673.2:g.2588846A=	GRCh38
NC_000011.9:g.2610076A= , CM000673.1:g.2610076A=	GRCh37
NC_000011.8:g.2566652A=	NCBI36
NG_008935.1:g.148856A= , LRG_287:g.148856A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1028A=	ENSP00000434560.2:p.Asp343=
ENST00000646564.2:c.845A=	ENSP00000495806.2:p.Asp282=
ENST00000155840.12:c.1385A= MANE Select	ENSP00000155840.2:p.Asp462=
ENST00000335475.6:c.1004A=	ENSP00000334497.5:p.Asp335=
ENST00000646564.1:c.491A=	ENSP00000495806.1:p.Asp164=
ENST00000155840.9:c.1385A=	ENSP00000155840.2:p.Asp462=
ENST00000335475.5:c.1004A=	ENSP00000334497.5:p.Asp335=
NM_000218.2:c.1385A= , LRG_287t1:c.1385A=	NP_000209.2:p.Asp462=
NM_181798.1:c.1004A= , LRG_287t2:c.1004A=	NP_861463.1:p.Asp335=
NM_000218.3:c.1385A= MANE Select	NP_000209.2:p.Asp462=