Canonical Allele Identifier: CA008952
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200830
dbSNP Id: rs199472755

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583478C>G , CM000673.2:g.2583478C>G GRCh38
NC_000011.9:g.2604708C>G , CM000673.1:g.2604708C>G GRCh37
NC_000011.8:g.2561284C>G NCBI36
NG_008935.1:g.143488C>G , LRG_287:g.143488C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.704C>G ENSP00000434560.2:p.Thr235Arg
ENST00000646564.2:c.521C>G ENSP00000495806.2:p.Thr174Arg
ENST00000155840.12:c.965C>G MANE Select ENSP00000155840.2:p.Thr322Arg
ENST00000335475.6:c.584C>G ENSP00000334497.5:p.Thr195Arg
ENST00000646564.1:c.167C>G ENSP00000495806.1:p.Thr56Arg
ENST00000155840.9:c.965C>G ENSP00000155840.2:p.Thr322Arg
ENST00000335475.5:c.584C>G ENSP00000334497.5:p.Thr195Arg
NM_000218.2:c.965C>G , LRG_287t1:c.965C>G NP_000209.2:p.Thr322Arg
NM_181798.1:c.584C>G , LRG_287t2:c.584C>G NP_861463.1:p.Thr195Arg
NM_000218.3:c.965C>G MANE Select NP_000209.2:p.Thr322Arg