Canonical Allele Identifier: CA1948225116

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583535C= , CM000673.2:g.2583535C=	GRCh38
NC_000011.9:g.2604765C= , CM000673.1:g.2604765C=	GRCh37
NC_000011.8:g.2561341C=	NCBI36
NG_008935.1:g.143545C= , LRG_287:g.143545C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1022C= MANE Select	NP_000209.2:p.Ala341=
ENST00000155840.12:c.1022C= MANE Select	ENSP00000155840.2:p.Ala341=
NM_000218.2:c.1022C= , LRG_287t1:c.1022C=	NP_000209.2:p.Ala341=
NM_181798.1:c.641C= , LRG_287t2:c.641C=	NP_861463.1:p.Ala214=
ENST00000155840.9:c.1022C=	ENSP00000155840.2:p.Ala341=
ENST00000335475.5:c.641C=	ENSP00000334497.5:p.Ala214=
ENST00000335475.6:c.641C=	ENSP00000334497.5:p.Ala214=
ENST00000496887.7:c.761C=	ENSP00000434560.2:p.Ala254=
ENST00000646564.1:c.224C=	ENSP00000495806.1:p.Ala75=
ENST00000646564.2:c.578C=	ENSP00000495806.2:p.Ala193=