Canonical Allele Identifier: CA1948310002

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768870T= , CM000673.2:g.2768870T=	GRCh38
NC_000011.9:g.2790100T= , CM000673.1:g.2790100T=	GRCh37
NC_000011.8:g.2746676T=	NCBI36
NG_008935.1:g.328880T= , LRG_287:g.328880T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1184T=	ENSP00000434560.2:p.Ile395=
ENST00000646564.2:c.1001T=	ENSP00000495806.2:p.Ile334=
ENST00000155840.12:c.1541T= MANE Select	ENSP00000155840.2:p.Ile514=
ENST00000335475.6:c.1160T=	ENSP00000334497.5:p.Ile387=
ENST00000646564.1:c.647T=	ENSP00000495806.1:p.Ile216=
ENST00000155840.9:c.1541T=	ENSP00000155840.2:p.Ile514=
ENST00000335475.5:c.1160T=	ENSP00000334497.5:p.Ile387=
NM_000218.2:c.1541T= , LRG_287t1:c.1541T=	NP_000209.2:p.Ile514=
NM_181798.1:c.1160T= , LRG_287t2:c.1160T=	NP_861463.1:p.Ile387=
NM_000218.3:c.1541T= MANE Select	NP_000209.2:p.Ile514=