Canonical Allele Identifier: CA1948242672

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572034C= , CM000673.2:g.2572034C=	GRCh38
NC_000011.9:g.2593264C= , CM000673.1:g.2593264C=	GRCh37
NC_000011.8:g.2549840C=	NCBI36
NG_008935.1:g.132044C= , LRG_287:g.132044C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.444C=	ENSP00000434560.2:p.Ile148=
ENST00000646564.2:c.478-11401C=	ENSP00000495806.2:n.478-11401C=
ENST00000155840.12:c.705C= MANE Select	ENSP00000155840.2:p.Ile235=
ENST00000335475.6:c.324C=	ENSP00000334497.5:p.Ile108=
ENST00000646564.1:c.124-11401C=	ENSP00000495806.1:n.124-11401C=
ENST00000155840.9:c.705C=	ENSP00000155840.2:p.Ile235=
ENST00000335475.5:c.324C=	ENSP00000334497.5:p.Ile108=
ENST00000496887.6:c.444C=	ENSP00000434560.1:p.Ile148=
NM_000218.2:c.705C= , LRG_287t1:c.705C=	NP_000209.2:p.Ile235=
NM_181798.1:c.324C= , LRG_287t2:c.324C=	NP_861463.1:p.Ile108=
NM_000218.3:c.705C= MANE Select	NP_000209.2:p.Ile235=