Canonical Allele Identifier: CA1948309958

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768857C= , CM000673.2:g.2768857C=	GRCh38
NC_000011.9:g.2790087C= , CM000673.1:g.2790087C=	GRCh37
NC_000011.8:g.2746663C=	NCBI36
NG_008935.1:g.328867C= , LRG_287:g.328867C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1171C=	ENSP00000434560.2:p.His391=
ENST00000646564.2:c.988C=	ENSP00000495806.2:p.His330=
ENST00000155840.12:c.1528C= MANE Select	ENSP00000155840.2:p.His510=
ENST00000335475.6:c.1147C=	ENSP00000334497.5:p.His383=
ENST00000646564.1:c.634C=	ENSP00000495806.1:p.His212=
ENST00000155840.9:c.1528C=	ENSP00000155840.2:p.His510=
ENST00000335475.5:c.1147C=	ENSP00000334497.5:p.His383=
NM_000218.2:c.1528C= , LRG_287t1:c.1528C=	NP_000209.2:p.His510=
NM_181798.1:c.1147C= , LRG_287t2:c.1147C=	NP_861463.1:p.His383=
NM_000218.3:c.1528C= MANE Select	NP_000209.2:p.His510=