Canonical Allele Identifier: CA006328
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3138
dbSNP Id: rs120074189

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2778003C>T , CM000673.2:g.2778003C>T GRCh38
NC_000011.9:g.2799233C>T , CM000673.1:g.2799233C>T GRCh37
NC_000011.8:g.2755809C>T NCBI36
NG_008935.1:g.338013C>T , LRG_287:g.338013C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000155840.9:c.1760C>T ENSP00000155840.2:p.Thr587Met
ENST00000335475.5:c.1379C>T ENSP00000334497.5:p.Thr460Met
NM_000218.2:c.1760C>T , LRG_287t1:c.1760C>T NP_000209.2:p.Thr587Met
NM_181798.1:c.1379C>T , LRG_287t2:c.1379C>T NP_861463.1:p.Thr460Met
NM_000218.3:c.1760C>T MANE Select NP_000209.2:p.Thr587Met