Canonical Allele Identifier: CA1948310021
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2768881C= , CM000673.2:g.2768881C= GRCh38
NC_000011.9:g.2790111C= , CM000673.1:g.2790111C= GRCh37
NC_000011.8:g.2746687C= NCBI36
NG_008935.1:g.328891C= , LRG_287:g.328891C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1195C= ENSP00000434560.2:p.Arg399=
ENST00000646564.2:c.1012C= ENSP00000495806.2:p.Arg338=
ENST00000155840.12:c.1552C= MANE Select ENSP00000155840.2:p.Arg518=
ENST00000335475.6:c.1171C= ENSP00000334497.5:p.Arg391=
ENST00000646564.1:c.658C= ENSP00000495806.1:p.Arg220=
ENST00000155840.9:c.1552C= ENSP00000155840.2:p.Arg518=
ENST00000335475.5:c.1171C= ENSP00000334497.5:p.Arg391=
NM_000218.2:c.1552C= , LRG_287t1:c.1552C= NP_000209.2:p.Arg518=
NM_181798.1:c.1171C= , LRG_287t2:c.1171C= NP_861463.1:p.Arg391=
NM_000218.3:c.1552C= MANE Select NP_000209.2:p.Arg518=