Canonical Allele Identifier: CA008554
Gene: KCNQ1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3128
dbSNP Id: rs120074187

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572963G>A , CM000673.2:g.2572963G>A GRCh38
NC_000011.9:g.2594193G>A , CM000673.1:g.2594193G>A GRCh37
NC_000011.8:g.2550769G>A NCBI36
NG_008935.1:g.132973G>A , LRG_287:g.132973G>A

Transcript Alleles

HGVS Amino-acid change
NM_000218.2:c.898G>A , LRG_287t1:c.898G>A NP_000209.2:p.Ala300Thr
NM_181798.1:c.517G>A , LRG_287t2:c.517G>A NP_861463.1:p.Ala173Thr
ENST00000155840.9:c.898G>A ENSP00000155840.2:p.Ala300Thr
ENST00000335475.5:c.517G>A ENSP00000334497.5:p.Ala173Thr