Canonical Allele Identifier: CA1948233291

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587622T= , CM000673.2:g.2587622T=	GRCh38
NC_000011.9:g.2608852T= , CM000673.1:g.2608852T=	GRCh37
NC_000011.8:g.2565428T=	NCBI36
NG_008935.1:g.147632T= , LRG_287:g.147632T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.824T=	ENSP00000434560.2:p.Ile275=
ENST00000646564.2:c.641T=	ENSP00000495806.2:p.Ile214=
ENST00000155840.12:c.1181T= MANE Select	ENSP00000155840.2:p.Ile394=
ENST00000335475.6:c.800T=	ENSP00000334497.5:p.Ile267=
ENST00000646564.1:c.287T=	ENSP00000495806.1:p.Ile96=
ENST00000155840.9:c.1181T=	ENSP00000155840.2:p.Ile394=
ENST00000335475.5:c.800T=	ENSP00000334497.5:p.Ile267=
NM_000218.2:c.1181T= , LRG_287t1:c.1181T=	NP_000209.2:p.Ile394=
NM_181798.1:c.800T= , LRG_287t2:c.800T=	NP_861463.1:p.Ile267=
NM_000218.3:c.1181T= MANE Select	NP_000209.2:p.Ile394=