Canonical Allele Identifier: CA1948242740

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572098A= , CM000673.2:g.2572098A=	GRCh38
NC_000011.9:g.2593328A= , CM000673.1:g.2593328A=	GRCh37
NC_000011.8:g.2549904A=	NCBI36
NG_008935.1:g.132108A= , LRG_287:g.132108A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.508A=	ENSP00000434560.2:p.Ile170=
ENST00000646564.2:c.478-11337A=	ENSP00000495806.2:n.478-11337A=
ENST00000155840.12:c.769A= MANE Select	ENSP00000155840.2:p.Ile257=
ENST00000335475.6:c.388A=	ENSP00000334497.5:p.Ile130=
ENST00000646564.1:c.124-11337A=	ENSP00000495806.1:n.124-11337A=
ENST00000155840.9:c.769A=	ENSP00000155840.2:p.Ile257=
ENST00000335475.5:c.388A=	ENSP00000334497.5:p.Ile130=
ENST00000496887.6:c.508A=	ENSP00000434560.1:p.Ile170=
NM_000218.2:c.769A= , LRG_287t1:c.769A=	NP_000209.2:p.Ile257=
NM_181798.1:c.388A= , LRG_287t2:c.388A=	NP_861463.1:p.Ile130=
NM_000218.3:c.769A= MANE Select	NP_000209.2:p.Ile257=