Canonical Allele Identifier: CA1948315119

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778022C= , CM000673.2:g.2778022C=	GRCh38
NC_000011.9:g.2799252C= , CM000673.1:g.2799252C=	GRCh37
NC_000011.8:g.2755828C=	NCBI36
NG_008935.1:g.338032C= , LRG_287:g.338032C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1422C=	ENSP00000434560.2:p.Asn474=
ENST00000646564.2:c.1239C=	ENSP00000495806.2:p.Asn413=
ENST00000155840.12:c.1779C= MANE Select	ENSP00000155840.2:p.Asn593=
ENST00000335475.6:c.1398C=	ENSP00000334497.5:p.Asn466=
ENST00000526095.2:c.183C=	ENSP00000494939.1:p.Asn61=
ENST00000646564.1:c.885C=	ENSP00000495806.1:p.Asn295=
ENST00000155840.9:c.1779C=	ENSP00000155840.2:p.Asn593=
ENST00000335475.5:c.1398C=	ENSP00000334497.5:p.Asn466=
ENST00000526095.1:n.286C=
NM_000218.2:c.1779C= , LRG_287t1:c.1779C=	NP_000209.2:p.Asn593=
NM_181798.1:c.1398C= , LRG_287t2:c.1398C=	NP_861463.1:p.Asn466=
NM_000218.3:c.1779C= MANE Select	NP_000209.2:p.Asn593=