Canonical Allele Identifier: CA1948224649

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583447A= , CM000673.2:g.2583447A=	GRCh38
NC_000011.9:g.2604677A= , CM000673.1:g.2604677A=	GRCh37
NC_000011.8:g.2561253A=	NCBI36
NG_008935.1:g.143457A= , LRG_287:g.143457A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.673A=	ENSP00000434560.2:p.Thr225=
ENST00000646564.2:c.490A=	ENSP00000495806.2:p.Thr164=
ENST00000155840.12:c.934A= MANE Select	ENSP00000155840.2:p.Thr312=
ENST00000335475.6:c.553A=	ENSP00000334497.5:p.Thr185=
ENST00000646564.1:c.136A=	ENSP00000495806.1:p.Thr46=
ENST00000155840.9:c.934A=	ENSP00000155840.2:p.Thr312=
ENST00000335475.5:c.553A=	ENSP00000334497.5:p.Thr185=
NM_000218.2:c.934A= , LRG_287t1:c.934A=	NP_000209.2:p.Thr312=
NM_181798.1:c.553A= , LRG_287t2:c.553A=	NP_861463.1:p.Thr185=
NM_000218.3:c.934A= MANE Select	NP_000209.2:p.Thr312=