Canonical Allele Identifier: CA1948196772

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527990C= , CM000673.2:g.2527990C=	GRCh38
NC_000011.9:g.2549220C= , CM000673.1:g.2549220C=	GRCh37
NC_000011.8:g.2505796C=	NCBI36
NG_008935.1:g.88000C= , LRG_287:g.88000C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.188C=	ENSP00000434560.2:p.Ala63=
ENST00000646564.2:c.449C=	ENSP00000495806.2:p.Ala150=
ENST00000155840.12:c.449C= MANE Select	ENSP00000155840.2:p.Ala150=
ENST00000335475.6:c.68C=	ENSP00000334497.5:p.Ala23=
ENST00000646564.1:c.95C=	ENSP00000495806.1:p.Ala32=
ENST00000155840.9:c.449C=	ENSP00000155840.2:p.Ala150=
ENST00000335475.5:c.68C=	ENSP00000334497.5:p.Ala23=
ENST00000496887.6:c.188C=	ENSP00000434560.1:p.Ala63=
NM_000218.2:c.449C= , LRG_287t1:c.449C=	NP_000209.2:p.Ala150=
NM_181798.1:c.68C= , LRG_287t2:c.68C=	NP_861463.1:p.Ala23=
NM_000218.3:c.449C= MANE Select	NP_000209.2:p.Ala150=