Canonical Allele Identifier: CA1948196769

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527987C= , CM000673.2:g.2527987C=	GRCh38
NC_000011.9:g.2549217C= , CM000673.1:g.2549217C=	GRCh37
NC_000011.8:g.2505793C=	NCBI36
NG_008935.1:g.87997C= , LRG_287:g.87997C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.185C=	ENSP00000434560.2:p.Ala62=
ENST00000646564.2:c.446C=	ENSP00000495806.2:p.Ala149=
ENST00000155840.12:c.446C= MANE Select	ENSP00000155840.2:p.Ala149=
ENST00000335475.6:c.65C=	ENSP00000334497.5:p.Ala22=
ENST00000646564.1:c.92C=	ENSP00000495806.1:p.Ala31=
ENST00000155840.9:c.446C=	ENSP00000155840.2:p.Ala149=
ENST00000335475.5:c.65C=	ENSP00000334497.5:p.Ala22=
ENST00000496887.6:c.185C=	ENSP00000434560.1:p.Ala62=
NM_000218.2:c.446C= , LRG_287t1:c.446C=	NP_000209.2:p.Ala149=
NM_181798.1:c.65C= , LRG_287t2:c.65C=	NP_861463.1:p.Ala22=
NM_000218.3:c.446C= MANE Select	NP_000209.2:p.Ala149=