Canonical Allele Identifier: CA006347
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3140
dbSNP Id: rs120074190

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2778009G>A , CM000673.2:g.2778009G>A GRCh38
NC_000011.9:g.2799239G>A , CM000673.1:g.2799239G>A GRCh37
NC_000011.8:g.2755815G>A NCBI36
NG_008935.1:g.338019G>A , LRG_287:g.338019G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000155840.9:c.1766G>A ENSP00000155840.2:p.Gly589Asp
ENST00000335475.5:c.1385G>A ENSP00000334497.5:p.Gly462Asp
NM_000218.2:c.1766G>A , LRG_287t1:c.1766G>A NP_000209.2:p.Gly589Asp
NM_181798.1:c.1385G>A , LRG_287t2:c.1385G>A NP_861463.1:p.Gly462Asp
NM_000218.3:c.1766G>A MANE Select NP_000209.2:p.Gly589Asp