Canonical Allele Identifier: CA1948233286

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587621A= , CM000673.2:g.2587621A=	GRCh38
NC_000011.9:g.2608851A= , CM000673.1:g.2608851A=	GRCh37
NC_000011.8:g.2565427A=	NCBI36
NG_008935.1:g.147631A= , LRG_287:g.147631A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.823A=	ENSP00000434560.2:p.Ile275=
ENST00000646564.2:c.640A=	ENSP00000495806.2:p.Ile214=
ENST00000155840.12:c.1180A= MANE Select	ENSP00000155840.2:p.Ile394=
ENST00000335475.6:c.799A=	ENSP00000334497.5:p.Ile267=
ENST00000646564.1:c.286A=	ENSP00000495806.1:p.Ile96=
ENST00000155840.9:c.1180A=	ENSP00000155840.2:p.Ile394=
ENST00000335475.5:c.799A=	ENSP00000334497.5:p.Ile267=
NM_000218.2:c.1180A= , LRG_287t1:c.1180A=	NP_000209.2:p.Ile394=
NM_181798.1:c.799A= , LRG_287t2:c.799A=	NP_861463.1:p.Ile267=
NM_000218.3:c.1180A= MANE Select	NP_000209.2:p.Ile394=