Canonical Allele Identifier: CA1948242093
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2571658C= , CM000673.2:g.2571658C= GRCh38
NC_000011.9:g.2592888C= , CM000673.1:g.2592888C= GRCh37
NC_000011.8:g.2549464C= NCBI36
NG_008935.1:g.131668C= , LRG_287:g.131668C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.422+255C= ENSP00000434560.2:n.422+255C=
ENST00000646564.2:c.478-11777C= ENSP00000495806.2:n.478-11777C=
ENST00000155840.12:c.683+255C= MANE Select ENSP00000155840.2:n.683+255C=
ENST00000335475.6:c.302+255C= ENSP00000334497.5:n.302+255C=
ENST00000646564.1:c.124-11777C= ENSP00000495806.1:n.124-11777C=
ENST00000155840.9:c.683+255C= ENSP00000155840.2:n.683+255C=
ENST00000335475.5:c.302+255C= ENSP00000334497.5:n.302+255C=
ENST00000496887.6:c.422+255C= ENSP00000434560.1:n.422+255C=
NM_000218.2:c.683+255C= , LRG_287t1:c.683+255C= NP_000209.2:n.683+255C=
NM_181798.1:c.302+255C= , LRG_287t2:c.302+255C= NP_861463.1:n.302+255C=
NM_000218.3:c.683+255C= MANE Select NP_000209.2:n.683+255C=