Canonical Allele Identifier: CA1948224564
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583438A= , CM000673.2:g.2583438A= GRCh38
NC_000011.9:g.2604668A= , CM000673.1:g.2604668A= GRCh37
NC_000011.8:g.2561244A= NCBI36
NG_008935.1:g.143448A= , LRG_287:g.143448A=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.664A= ENSP00000434560.2:p.Thr222=
ENST00000646564.2:c.481A= ENSP00000495806.2:p.Thr161=
ENST00000155840.12:c.925A= MANE Select ENSP00000155840.2:p.Thr309=
ENST00000335475.6:c.544A= ENSP00000334497.5:p.Thr182=
ENST00000646564.1:c.127A= ENSP00000495806.1:p.Thr43=
ENST00000155840.9:c.925A= ENSP00000155840.2:p.Thr309=
ENST00000335475.5:c.544A= ENSP00000334497.5:p.Thr182=
NM_000218.2:c.925A= , LRG_287t1:c.925A= NP_000209.2:p.Thr309=
NM_181798.1:c.544A= , LRG_287t2:c.544A= NP_861463.1:p.Thr182=
NM_000218.3:c.925A= MANE Select NP_000209.2:p.Thr309=