Canonical Allele Identifier: CA1948243179

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572869C= , CM000673.2:g.2572869C=	GRCh38
NC_000011.9:g.2594099C= , CM000673.1:g.2594099C=	GRCh37
NC_000011.8:g.2550675C=	NCBI36
NG_008935.1:g.132879C= , LRG_287:g.132879C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.543C=	ENSP00000434560.2:p.Ile181=
ENST00000646564.2:c.478-10566C=	ENSP00000495806.2:n.478-10566C=
ENST00000155840.12:c.804C= MANE Select	ENSP00000155840.2:p.Ile268=
ENST00000335475.6:c.423C=	ENSP00000334497.5:p.Ile141=
ENST00000646564.1:c.124-10566C=	ENSP00000495806.1:n.124-10566C=
ENST00000155840.9:c.804C=	ENSP00000155840.2:p.Ile268=
ENST00000335475.5:c.423C=	ENSP00000334497.5:p.Ile141=
ENST00000496887.6:c.543C=	ENSP00000434560.1:p.Ile181=
NM_000218.2:c.804C= , LRG_287t1:c.804C=	NP_000209.2:p.Ile268=
NM_181798.1:c.423C= , LRG_287t2:c.423C=	NP_861463.1:p.Ile141=
NM_000218.3:c.804C= MANE Select	NP_000209.2:p.Ile268=