Canonical Allele Identifier: CA1948224569
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583439C= , CM000673.2:g.2583439C= GRCh38
NC_000011.9:g.2604669C= , CM000673.1:g.2604669C= GRCh37
NC_000011.8:g.2561245C= NCBI36
NG_008935.1:g.143449C= , LRG_287:g.143449C=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.665C= ENSP00000434560.2:p.Thr222=
ENST00000646564.2:c.482C= ENSP00000495806.2:p.Thr161=
ENST00000155840.12:c.926C= MANE Select ENSP00000155840.2:p.Thr309=
ENST00000335475.6:c.545C= ENSP00000334497.5:p.Thr182=
ENST00000646564.1:c.128C= ENSP00000495806.1:p.Thr43=
ENST00000155840.9:c.926C= ENSP00000155840.2:p.Thr309=
ENST00000335475.5:c.545C= ENSP00000334497.5:p.Thr182=
NM_000218.2:c.926C= , LRG_287t1:c.926C= NP_000209.2:p.Thr309=
NM_181798.1:c.545C= , LRG_287t2:c.545C= NP_861463.1:p.Thr182=
NM_000218.3:c.926C= MANE Select NP_000209.2:p.Thr309=