Canonical Allele Identifier: CA1948224744

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583458T= , CM000673.2:g.2583458T=	GRCh38
NC_000011.9:g.2604688T= , CM000673.1:g.2604688T=	GRCh37
NC_000011.8:g.2561264T=	NCBI36
NG_008935.1:g.143468T= , LRG_287:g.143468T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.684T=	ENSP00000434560.2:p.Tyr228=
ENST00000646564.2:c.501T=	ENSP00000495806.2:p.Tyr167=
ENST00000155840.12:c.945T= MANE Select	ENSP00000155840.2:p.Tyr315=
ENST00000335475.6:c.564T=	ENSP00000334497.5:p.Tyr188=
ENST00000646564.1:c.147T=	ENSP00000495806.1:p.Tyr49=
ENST00000155840.9:c.945T=	ENSP00000155840.2:p.Tyr315=
ENST00000335475.5:c.564T=	ENSP00000334497.5:p.Tyr188=
NM_000218.2:c.945T= , LRG_287t1:c.945T=	NP_000209.2:p.Tyr315=
NM_181798.1:c.564T= , LRG_287t2:c.564T=	NP_861463.1:p.Tyr188=
NM_000218.3:c.945T= MANE Select	NP_000209.2:p.Tyr315=