Canonical Allele Identifier: CA1948239540

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570663C= , CM000673.2:g.2570663C=	GRCh38
NC_000011.9:g.2591893C= , CM000673.1:g.2591893C=	GRCh37
NC_000011.8:g.2548469C=	NCBI36
NG_008935.1:g.130673C= , LRG_287:g.130673C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.252C=	ENSP00000434560.2:p.Tyr84=
ENST00000646564.2:c.478-12772C=	ENSP00000495806.2:n.478-12772C=
ENST00000155840.12:c.513C= MANE Select	ENSP00000155840.2:p.Tyr171=
ENST00000335475.6:c.132C=	ENSP00000334497.5:p.Tyr44=
ENST00000646564.1:c.124-12772C=	ENSP00000495806.1:n.124-12772C=
ENST00000155840.9:c.513C=	ENSP00000155840.2:p.Tyr171=
ENST00000335475.5:c.132C=	ENSP00000334497.5:p.Tyr44=
ENST00000496887.6:c.252C=	ENSP00000434560.1:p.Tyr84=
NM_000218.2:c.513C= , LRG_287t1:c.513C=	NP_000209.2:p.Tyr171=
NM_181798.1:c.132C= , LRG_287t2:c.132C=	NP_861463.1:p.Tyr44=
NM_000218.3:c.513C= MANE Select	NP_000209.2:p.Tyr171=