Canonical Allele Identifier: CA005949
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3132
dbSNP Id: rs120074188

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2768902G>A , CM000673.2:g.2768902G>A GRCh38
NC_000011.9:g.2790132G>A , CM000673.1:g.2790132G>A GRCh37
NC_000011.8:g.2746708G>A NCBI36
NG_008935.1:g.328912G>A , LRG_287:g.328912G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000155840.9:c.1573G>A ENSP00000155840.2:p.Ala525Thr
ENST00000335475.5:c.1192G>A ENSP00000334497.5:p.Ala398Thr
NM_000218.2:c.1573G>A , LRG_287t1:c.1573G>A NP_000209.2:p.Ala525Thr
NM_181798.1:c.1192G>A , LRG_287t2:c.1192G>A NP_861463.1:p.Ala398Thr
NM_000218.3:c.1573G>A MANE Select NP_000209.2:p.Ala525Thr