Canonical Allele Identifier: CA2832563390

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587641_2587642dup , CM000673.2:g.2587641_2587642dup	GRCh38
NC_000011.9:g.2608871_2608872dup , CM000673.1:g.2608871_2608872dup	GRCh37
NC_000011.8:g.2565447_2565448dup	NCBI36
NG_008935.1:g.147651_147652dup , LRG_287:g.147651_147652dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.843_844dup	ENSP00000434560.2:p.Arg282ProfsTer19
ENST00000646564.2:c.660_661dup	ENSP00000495806.2:p.Arg221ProfsTer19
ENST00000155840.12:c.1200_1201dup MANE Select	ENSP00000155840.2:p.Arg401ProfsTer19
ENST00000335475.6:c.819_820dup	ENSP00000334497.5:p.Arg274ProfsTer19
ENST00000646564.1:c.306_307dup	ENSP00000495806.1:p.Arg103ProfsTer19
ENST00000155840.9:c.1200_1201dup	ENSP00000155840.2:p.Arg401ProfsTer19
ENST00000335475.5:c.819_820dup	ENSP00000334497.5:p.Arg274ProfsTer19
NM_000218.2:c.1200_1201dup , LRG_287t1:c.1200_1201dup	NP_000209.2:p.Arg401ProfsTer19
NM_181798.1:c.819_820dup , LRG_287t2:c.819_820dup	NP_861463.1:p.Arg274ProfsTer19
NM_000218.3:c.1200_1201dup MANE Select	NP_000209.2:p.Arg401ProfsTer19