Canonical Allele Identifier: CA1948171449

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2463502C= , CM000673.2:g.2463502C=	GRCh38
NC_000011.9:g.2484732C= , CM000673.1:g.2484732C=	GRCh37
NC_000011.8:g.2441308C=	NCBI36
NG_008935.1:g.23512C= , LRG_287:g.23512C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000380776.5:n.91+1525C=
ENST00000496887.7:c.125+18018C=	ENSP00000434560.2:n.125+18018C=
ENST00000646564.2:c.386+18018C=	ENSP00000495806.2:n.386+18018C=
ENST00000155840.12:c.386+18018C= MANE Select	ENSP00000155840.2:n.386+18018C=
ENST00000335475.6:c.5+1788C=	ENSP00000334497.5:n.5+1788C=
ENST00000646564.1:c.32+18018C=	ENSP00000495806.1:n.32+18018C=
ENST00000155840.9:c.386+18018C=	ENSP00000155840.2:n.386+18018C=
ENST00000335475.5:c.5+1788C=	ENSP00000334497.5:n.5+1788C=
ENST00000345015.4:n.163+18018C=
ENST00000380776.4:c.84+1525C=	ENSP00000370153.4:n.84+1525C=
ENST00000496887.6:c.125+18018C=	ENSP00000434560.1:n.125+18018C=
NM_000218.2:c.386+18018C= , LRG_287t1:c.386+18018C=	NP_000209.2:n.386+18018C=
NM_181798.1:c.5+1788C= , LRG_287t2:c.5+1788C=	NP_861463.1:n.5+1788C=
NM_000218.3:c.386+18018C= MANE Select	NP_000209.2:n.386+18018C=