Canonical Allele Identifier: CA1948160867

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445200C= , CM000673.2:g.2445200C=	GRCh38
NC_000011.9:g.2466430C= , CM000673.1:g.2466430C=	GRCh37
NC_000011.8:g.2423006C=	NCBI36
NG_008935.1:g.5210C= , LRG_287:g.5210C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.24-183C=	ENSP00000434560.2:n.24-183C=
ENST00000646564.2:c.102C=	ENSP00000495806.2:p.Cys34=
ENST00000155840.12:c.102C= MANE Select	ENSP00000155840.2:p.Cys34=
ENST00000155840.9:c.102C=	ENSP00000155840.2:p.Cys34=
ENST00000496887.6:c.24-183C=	ENSP00000434560.1:n.24-183C=
NM_000218.2:c.102C= , LRG_287t1:c.102C=	NP_000209.2:p.Cys34=
NM_000218.3:c.102C= MANE Select	NP_000209.2:p.Cys34=