Canonical Allele Identifier: CA1948212115

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572932C= , CM000673.2:g.2572932C=	GRCh38
NC_000011.9:g.2594162C= , CM000673.1:g.2594162C=	GRCh37
NC_000011.8:g.2550738C=	NCBI36
NG_008935.1:g.132942C= , LRG_287:g.132942C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.606C=	ENSP00000434560.2:p.Asn202=
ENST00000646564.2:c.478-10503C=	ENSP00000495806.2:n.478-10503C=
ENST00000155840.12:c.867C= MANE Select	ENSP00000155840.2:p.Asn289=
ENST00000335475.6:c.486C=	ENSP00000334497.5:p.Asn162=
ENST00000646564.1:c.124-10503C=	ENSP00000495806.1:n.124-10503C=
ENST00000155840.9:c.867C=	ENSP00000155840.2:p.Asn289=
ENST00000335475.5:c.486C=	ENSP00000334497.5:p.Asn162=
NM_000218.2:c.867C= , LRG_287t1:c.867C=	NP_000209.2:p.Asn289=
NM_181798.1:c.486C= , LRG_287t2:c.486C=	NP_861463.1:p.Asn162=
NM_000218.3:c.867C= MANE Select	NP_000209.2:p.Asn289=