Canonical Allele Identifier: CA008706
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 68483
ClinVar RCV Id: RCV000059355
dbSNP Id: rs199473468

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.664A>T ENSP00000434560.2:p.Thr222Ser
ENST00000646564.2:c.481A>T ENSP00000495806.2:p.Thr161Ser
ENST00000155840.12:c.925A>T MANE Select ENSP00000155840.2:p.Thr309Ser
ENST00000335475.6:c.544A>T ENSP00000334497.5:p.Thr182Ser
ENST00000646564.1:c.127A>T ENSP00000495806.1:p.Thr43Ser
ENST00000155840.9:c.925A>T ENSP00000155840.2:p.Thr309Ser
ENST00000335475.5:c.544A>T ENSP00000334497.5:p.Thr182Ser
NM_000218.2:c.925A>T , LRG_287t1:c.925A>T NP_000209.2:p.Thr309Ser
NM_181798.1:c.544A>T , LRG_287t2:c.544A>T NP_861463.1:p.Thr182Ser
NM_000218.3:c.925A>T MANE Select NP_000209.2:p.Thr309Ser