Canonical Allele Identifier: CA1948196763

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527976C= , CM000673.2:g.2527976C=	GRCh38
NC_000011.9:g.2549206C= , CM000673.1:g.2549206C=	GRCh37
NC_000011.8:g.2505782C=	NCBI36
NG_008935.1:g.87986C= , LRG_287:g.87986C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.174C=	ENSP00000434560.2:p.Ile58=
ENST00000646564.2:c.435C=	ENSP00000495806.2:p.Ile145=
ENST00000155840.12:c.435C= MANE Select	ENSP00000155840.2:p.Ile145=
ENST00000335475.6:c.54C=	ENSP00000334497.5:p.Ile18=
ENST00000646564.1:c.81C=	ENSP00000495806.1:p.Ile27=
ENST00000155840.9:c.435C=	ENSP00000155840.2:p.Ile145=
ENST00000335475.5:c.54C=	ENSP00000334497.5:p.Ile18=
ENST00000345015.4:n.304C=
ENST00000496887.6:c.174C=	ENSP00000434560.1:p.Ile58=
NM_000218.2:c.435C= , LRG_287t1:c.435C=	NP_000209.2:p.Ile145=
NM_181798.1:c.54C= , LRG_287t2:c.54C=	NP_861463.1:p.Ile18=
NM_000218.3:c.435C= MANE Select	NP_000209.2:p.Ile145=