Canonical Allele Identifier: CA1948236383

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588847C= , CM000673.2:g.2588847C=	GRCh38
NC_000011.9:g.2610077C= , CM000673.1:g.2610077C=	GRCh37
NC_000011.8:g.2566653C=	NCBI36
NG_008935.1:g.148857C= , LRG_287:g.148857C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1029C=	ENSP00000434560.2:p.Asp343=
ENST00000646564.2:c.846C=	ENSP00000495806.2:p.Asp282=
ENST00000155840.12:c.1386C= MANE Select	ENSP00000155840.2:p.Asp462=
ENST00000335475.6:c.1005C=	ENSP00000334497.5:p.Asp335=
ENST00000646564.1:c.492C=	ENSP00000495806.1:p.Asp164=
ENST00000155840.9:c.1386C=	ENSP00000155840.2:p.Asp462=
ENST00000335475.5:c.1005C=	ENSP00000334497.5:p.Asp335=
NM_000218.2:c.1386C= , LRG_287t1:c.1386C=	NP_000209.2:p.Asp462=
NM_181798.1:c.1005C= , LRG_287t2:c.1005C=	NP_861463.1:p.Asp335=
NM_000218.3:c.1386C= MANE Select	NP_000209.2:p.Asp462=