Canonical Allele Identifier: CA3002923054

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583466dup , CM000673.2:g.2583466dup	GRCh38
NC_000011.9:g.2604696dup , CM000673.1:g.2604696dup	GRCh37
NC_000011.8:g.2561272dup	NCBI36
NG_008935.1:g.143476dup , LRG_287:g.143476dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.692dup	ENSP00000434560.2:p.Val232GlyfsTer?
ENST00000646564.2:c.509dup	ENSP00000495806.2:p.Val171GlyfsTer?
ENST00000155840.12:c.953dup MANE Select	ENSP00000155840.2:p.Val319GlyfsTer?
ENST00000335475.6:c.572dup	ENSP00000334497.5:p.Val192GlyfsTer?
ENST00000646564.1:c.155dup	ENSP00000495806.1:p.Val53GlyfsTer?
ENST00000155840.9:c.953dup	ENSP00000155840.2:p.Val319GlyfsTer?
ENST00000335475.5:c.572dup	ENSP00000334497.5:p.Val192GlyfsTer?
NM_000218.2:c.953dup , LRG_287t1:c.953dup	NP_000209.2:p.Val319GlyfsTer?
NM_181798.1:c.572dup , LRG_287t2:c.572dup	NP_861463.1:p.Val192GlyfsTer?
NM_000218.3:c.953dup MANE Select	NP_000209.2:p.Val319GlyfsTer?