Canonical Allele Identifier: CA1948224621

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583443C= , CM000673.2:g.2583443C=	GRCh38
NC_000011.9:g.2604673C= , CM000673.1:g.2604673C=	GRCh37
NC_000011.8:g.2561249C=	NCBI36
NG_008935.1:g.143453C= , LRG_287:g.143453C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.669C=	ENSP00000434560.2:p.Val223=
ENST00000646564.2:c.486C=	ENSP00000495806.2:p.Val162=
ENST00000155840.12:c.930C= MANE Select	ENSP00000155840.2:p.Val310=
ENST00000335475.6:c.549C=	ENSP00000334497.5:p.Val183=
ENST00000646564.1:c.132C=	ENSP00000495806.1:p.Val44=
ENST00000155840.9:c.930C=	ENSP00000155840.2:p.Val310=
ENST00000335475.5:c.549C=	ENSP00000334497.5:p.Val183=
NM_000218.2:c.930C= , LRG_287t1:c.930C=	NP_000209.2:p.Val310=
NM_181798.1:c.549C= , LRG_287t2:c.549C=	NP_861463.1:p.Val183=
NM_000218.3:c.930C= MANE Select	NP_000209.2:p.Val310=