Canonical Allele Identifier: CA1948243196

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572893C= , CM000673.2:g.2572893C=	GRCh38
NC_000011.9:g.2594123C= , CM000673.1:g.2594123C=	GRCh37
NC_000011.8:g.2550699C=	NCBI36
NG_008935.1:g.132903C= , LRG_287:g.132903C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.567C=	ENSP00000434560.2:p.Ser189=
ENST00000646564.2:c.478-10542C=	ENSP00000495806.2:n.478-10542C=
ENST00000155840.12:c.828C= MANE Select	ENSP00000155840.2:p.Ser276=
ENST00000335475.6:c.447C=	ENSP00000334497.5:p.Ser149=
ENST00000646564.1:c.124-10542C=	ENSP00000495806.1:n.124-10542C=
ENST00000155840.9:c.828C=	ENSP00000155840.2:p.Ser276=
ENST00000335475.5:c.447C=	ENSP00000334497.5:p.Ser149=
ENST00000496887.6:c.567C=	ENSP00000434560.1:p.Ser189=
NM_000218.2:c.828C= , LRG_287t1:c.828C=	NP_000209.2:p.Ser276=
NM_181798.1:c.447C= , LRG_287t2:c.447C=	NP_861463.1:p.Ser149=
NM_000218.3:c.828C= MANE Select	NP_000209.2:p.Ser276=