Canonical Allele Identifier: CA1948196768

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527986G= , CM000673.2:g.2527986G=	GRCh38
NC_000011.9:g.2549216G= , CM000673.1:g.2549216G=	GRCh37
NC_000011.8:g.2505792G=	NCBI36
NG_008935.1:g.87996G= , LRG_287:g.87996G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.184G=	ENSP00000434560.2:p.Ala62=
ENST00000646564.2:c.445G=	ENSP00000495806.2:p.Ala149=
ENST00000155840.12:c.445G= MANE Select	ENSP00000155840.2:p.Ala149=
ENST00000335475.6:c.64G=	ENSP00000334497.5:p.Ala22=
ENST00000646564.1:c.91G=	ENSP00000495806.1:p.Ala31=
ENST00000155840.9:c.445G=	ENSP00000155840.2:p.Ala149=
ENST00000335475.5:c.64G=	ENSP00000334497.5:p.Ala22=
ENST00000496887.6:c.184G=	ENSP00000434560.1:p.Ala62=
NM_000218.2:c.445G= , LRG_287t1:c.445G=	NP_000209.2:p.Ala149=
NM_181798.1:c.64G= , LRG_287t2:c.64G=	NP_861463.1:p.Ala22=
NM_000218.3:c.445G= MANE Select	NP_000209.2:p.Ala149=