Canonical Allele Identifier: CA1948240096

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570742A= , CM000673.2:g.2570742A=	GRCh38
NC_000011.9:g.2591972A= , CM000673.1:g.2591972A=	GRCh37
NC_000011.8:g.2548548A=	NCBI36
NG_008935.1:g.130752A= , LRG_287:g.130752A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.592A= MANE Select	NP_000209.2:p.Ile198=
ENST00000155840.12:c.592A= MANE Select	ENSP00000155840.2:p.Ile198=
NM_000218.2:c.592A= , LRG_287t1:c.592A=	NP_000209.2:p.Ile198=
NM_181798.1:c.211A= , LRG_287t2:c.211A=	NP_861463.1:p.Ile71=
ENST00000155840.9:c.592A=	ENSP00000155840.2:p.Ile198=
ENST00000335475.5:c.211A=	ENSP00000334497.5:p.Ile71=
ENST00000335475.6:c.211A=	ENSP00000334497.5:p.Ile71=
ENST00000496887.6:c.331A=	ENSP00000434560.1:p.Ile111=
ENST00000496887.7:c.331A=	ENSP00000434560.2:p.Ile111=
ENST00000646564.1:c.124-12693A=	ENSP00000495806.1:n.124-12693A=
ENST00000646564.2:c.478-12693A=	ENSP00000495806.2:n.478-12693A=