Canonical Allele Identifier: CA3002923020

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583449dup , CM000673.2:g.2583449dup	GRCh38
NC_000011.9:g.2604679dup , CM000673.1:g.2604679dup	GRCh37
NC_000011.8:g.2561255dup	NCBI36
NG_008935.1:g.143459dup , LRG_287:g.143459dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.675dup	ENSP00000434560.2:p.Ile226HisfsTer?
ENST00000646564.2:c.492dup	ENSP00000495806.2:p.Ile165HisfsTer?
ENST00000155840.12:c.936dup MANE Select	ENSP00000155840.2:p.Ile313HisfsTer?
ENST00000335475.6:c.555dup	ENSP00000334497.5:p.Ile186HisfsTer?
ENST00000646564.1:c.138dup	ENSP00000495806.1:p.Ile47HisfsTer?
ENST00000155840.9:c.936dup	ENSP00000155840.2:p.Ile313HisfsTer?
ENST00000335475.5:c.555dup	ENSP00000334497.5:p.Ile186HisfsTer?
NM_000218.2:c.936dup , LRG_287t1:c.936dup	NP_000209.2:p.Ile313HisfsTer?
NM_181798.1:c.555dup , LRG_287t2:c.555dup	NP_861463.1:p.Ile186HisfsTer?
NM_000218.3:c.936dup MANE Select	NP_000209.2:p.Ile313HisfsTer?