Canonical Allele Identifier: CA1948314032

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2775977C= , CM000673.2:g.2775977C=	GRCh38
NC_000011.9:g.2797207C= , CM000673.1:g.2797207C=	GRCh37
NC_000011.8:g.2753783C=	NCBI36
NG_008935.1:g.335987C= , LRG_287:g.335987C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1251C=	ENSP00000434560.2:p.Tyr417=
ENST00000646564.2:c.1068C=	ENSP00000495806.2:p.Tyr356=
ENST00000155840.12:c.1608C= MANE Select	ENSP00000155840.2:p.Tyr536=
ENST00000335475.6:c.1227C=	ENSP00000334497.5:p.Tyr409=
ENST00000646564.1:c.714C=	ENSP00000495806.1:p.Tyr238=
ENST00000155840.9:c.1608C=	ENSP00000155840.2:p.Tyr536=
ENST00000335475.5:c.1227C=	ENSP00000334497.5:p.Tyr409=
NM_000218.2:c.1608C= , LRG_287t1:c.1608C=	NP_000209.2:p.Tyr536=
NM_181798.1:c.1227C= , LRG_287t2:c.1227C=	NP_861463.1:p.Tyr409=
NM_000218.3:c.1608C= MANE Select	NP_000209.2:p.Tyr536=