Canonical Allele Identifier: CA379132956
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.664A>G ENSP00000434560.2:p.Thr222Ala
ENST00000646564.2:c.481A>G ENSP00000495806.2:p.Thr161Ala
ENST00000155840.12:c.925A>G MANE Select ENSP00000155840.2:p.Thr309Ala
ENST00000335475.6:c.544A>G ENSP00000334497.5:p.Thr182Ala
ENST00000646564.1:c.127A>G ENSP00000495806.1:p.Thr43Ala
ENST00000155840.9:c.925A>G ENSP00000155840.2:p.Thr309Ala
ENST00000335475.5:c.544A>G ENSP00000334497.5:p.Thr182Ala
NM_000218.2:c.925A>G , LRG_287t1:c.925A>G NP_000209.2:p.Thr309Ala
NM_181798.1:c.544A>G , LRG_287t2:c.544A>G NP_861463.1:p.Thr182Ala
NM_000218.3:c.925A>G MANE Select NP_000209.2:p.Thr309Ala