Canonical Allele Identifier: CA1948212041

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572920G= , CM000673.2:g.2572920G=	GRCh38
NC_000011.9:g.2594150G= , CM000673.1:g.2594150G=	GRCh37
NC_000011.8:g.2550726G=	NCBI36
NG_008935.1:g.132930G= , LRG_287:g.132930G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.594G=	ENSP00000434560.2:p.Lys198=
ENST00000646564.2:c.478-10515G=	ENSP00000495806.2:n.478-10515G=
ENST00000155840.12:c.855G= MANE Select	ENSP00000155840.2:p.Lys285=
ENST00000335475.6:c.474G=	ENSP00000334497.5:p.Lys158=
ENST00000646564.1:c.124-10515G=	ENSP00000495806.1:n.124-10515G=
ENST00000155840.9:c.855G=	ENSP00000155840.2:p.Lys285=
ENST00000335475.5:c.474G=	ENSP00000334497.5:p.Lys158=
NM_000218.2:c.855G= , LRG_287t1:c.855G=	NP_000209.2:p.Lys285=
NM_181798.1:c.474G= , LRG_287t2:c.474G=	NP_861463.1:p.Lys158=
NM_000218.3:c.855G= MANE Select	NP_000209.2:p.Lys285=