Canonical Allele Identifier: CA1948233568

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587679A= , CM000673.2:g.2587679A=	GRCh38
NC_000011.9:g.2608909A= , CM000673.1:g.2608909A=	GRCh37
NC_000011.8:g.2565485A=	NCBI36
NG_008935.1:g.147689A= , LRG_287:g.147689A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.881A=	ENSP00000434560.2:p.Lys294=
ENST00000646564.2:c.698A=	ENSP00000495806.2:p.Lys233=
ENST00000155840.12:c.1238A= MANE Select	ENSP00000155840.2:p.Lys413=
ENST00000335475.6:c.857A=	ENSP00000334497.5:p.Lys286=
ENST00000646564.1:c.344A=	ENSP00000495806.1:p.Lys115=
ENST00000155840.9:c.1238A=	ENSP00000155840.2:p.Lys413=
ENST00000335475.5:c.857A=	ENSP00000334497.5:p.Lys286=
NM_000218.2:c.1238A= , LRG_287t1:c.1238A=	NP_000209.2:p.Lys413=
NM_181798.1:c.857A= , LRG_287t2:c.857A=	NP_861463.1:p.Lys286=
NM_000218.3:c.1238A= MANE Select	NP_000209.2:p.Lys413=