Canonical Allele Identifier: CA1948225090

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583529T= , CM000673.2:g.2583529T=	GRCh38
NC_000011.9:g.2604759T= , CM000673.1:g.2604759T=	GRCh37
NC_000011.8:g.2561335T=	NCBI36
NG_008935.1:g.143539T= , LRG_287:g.143539T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.755T=	ENSP00000434560.2:p.Phe252=
ENST00000646564.2:c.572T=	ENSP00000495806.2:p.Phe191=
ENST00000155840.12:c.1016T= MANE Select	ENSP00000155840.2:p.Phe339=
ENST00000335475.6:c.635T=	ENSP00000334497.5:p.Phe212=
ENST00000646564.1:c.218T=	ENSP00000495806.1:p.Phe73=
ENST00000155840.9:c.1016T=	ENSP00000155840.2:p.Phe339=
ENST00000335475.5:c.635T=	ENSP00000334497.5:p.Phe212=
NM_000218.2:c.1016T= , LRG_287t1:c.1016T=	NP_000209.2:p.Phe339=
NM_181798.1:c.635T= , LRG_287t2:c.635T=	NP_861463.1:p.Phe212=
NM_000218.3:c.1016T= MANE Select	NP_000209.2:p.Phe339=