Canonical Allele Identifier: CA1948224723

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583457A= , CM000673.2:g.2583457A=	GRCh38
NC_000011.9:g.2604687A= , CM000673.1:g.2604687A=	GRCh37
NC_000011.8:g.2561263A=	NCBI36
NG_008935.1:g.143467A= , LRG_287:g.143467A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.683A=	ENSP00000434560.2:p.Tyr228=
ENST00000646564.2:c.500A=	ENSP00000495806.2:p.Tyr167=
ENST00000155840.12:c.944A= MANE Select	ENSP00000155840.2:p.Tyr315=
ENST00000335475.6:c.563A=	ENSP00000334497.5:p.Tyr188=
ENST00000646564.1:c.146A=	ENSP00000495806.1:p.Tyr49=
ENST00000155840.9:c.944A=	ENSP00000155840.2:p.Tyr315=
ENST00000335475.5:c.563A=	ENSP00000334497.5:p.Tyr188=
NM_000218.2:c.944A= , LRG_287t1:c.944A=	NP_000209.2:p.Tyr315=
NM_181798.1:c.563A= , LRG_287t2:c.563A=	NP_861463.1:p.Tyr188=
NM_000218.3:c.944A= MANE Select	NP_000209.2:p.Tyr315=