Canonical Allele Identifier: CA1948224929

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583485C= , CM000673.2:g.2583485C=	GRCh38
NC_000011.9:g.2604715C= , CM000673.1:g.2604715C=	GRCh37
NC_000011.8:g.2561291C=	NCBI36
NG_008935.1:g.143495C= , LRG_287:g.143495C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.711C=	ENSP00000434560.2:p.Val237=
ENST00000646564.2:c.528C=	ENSP00000495806.2:p.Val176=
ENST00000155840.12:c.972C= MANE Select	ENSP00000155840.2:p.Val324=
ENST00000335475.6:c.591C=	ENSP00000334497.5:p.Val197=
ENST00000646564.1:c.174C=	ENSP00000495806.1:p.Val58=
ENST00000155840.9:c.972C=	ENSP00000155840.2:p.Val324=
ENST00000335475.5:c.591C=	ENSP00000334497.5:p.Val197=
NM_000218.2:c.972C= , LRG_287t1:c.972C=	NP_000209.2:p.Val324=
NM_181798.1:c.591C= , LRG_287t2:c.591C=	NP_861463.1:p.Val197=
NM_000218.3:c.972C= MANE Select	NP_000209.2:p.Val324=