Canonical Allele Identifier: CA1948310291

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2769105C= , CM000673.2:g.2769105C=	GRCh38
NC_000011.9:g.2790335C= , CM000673.1:g.2790335C=	GRCh37
NC_000011.8:g.2746911C=	NCBI36
NG_008935.1:g.329115C= , LRG_287:g.329115C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1233+186C=	ENSP00000434560.2:n.1233+186C=
ENST00000646564.2:c.1050+186C=	ENSP00000495806.2:n.1050+186C=
ENST00000155840.12:c.1590+186C= MANE Select	ENSP00000155840.2:n.1590+186C=
ENST00000335475.6:c.1209+186C=	ENSP00000334497.5:n.1209+186C=
ENST00000646564.1:c.696+186C=	ENSP00000495806.1:n.696+186C=
ENST00000155840.9:c.1590+186C=	ENSP00000155840.2:n.1590+186C=
ENST00000335475.5:c.1209+186C=	ENSP00000334497.5:n.1209+186C=
NM_000218.2:c.1590+186C= , LRG_287t1:c.1590+186C=	NP_000209.2:n.1590+186C=
NM_181798.1:c.1209+186C= , LRG_287t2:c.1209+186C=	NP_861463.1:n.1209+186C=
NM_000218.3:c.1590+186C= MANE Select	NP_000209.2:n.1590+186C=