Canonical Allele Identifier: CA1948212235

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572952T= , CM000673.2:g.2572952T=	GRCh38
NC_000011.9:g.2594182T= , CM000673.1:g.2594182T=	GRCh37
NC_000011.8:g.2550758T=	NCBI36
NG_008935.1:g.132962T= , LRG_287:g.132962T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.626T=	ENSP00000434560.2:p.Phe209=
ENST00000646564.2:c.478-10483T=	ENSP00000495806.2:n.478-10483T=
ENST00000155840.12:c.887T= MANE Select	ENSP00000155840.2:p.Phe296=
ENST00000335475.6:c.506T=	ENSP00000334497.5:p.Phe169=
ENST00000646564.1:c.124-10483T=	ENSP00000495806.1:n.124-10483T=
ENST00000155840.9:c.887T=	ENSP00000155840.2:p.Phe296=
ENST00000335475.5:c.506T=	ENSP00000334497.5:p.Phe169=
NM_000218.2:c.887T= , LRG_287t1:c.887T=	NP_000209.2:p.Phe296=
NM_181798.1:c.506T= , LRG_287t2:c.506T=	NP_861463.1:p.Phe169=
NM_000218.3:c.887T= MANE Select	NP_000209.2:p.Phe296=