Canonical Allele Identifier: CA645569428
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583447del , CM000673.2:g.2583447del GRCh38
NC_000011.9:g.2604677del , CM000673.1:g.2604677del GRCh37
NC_000011.8:g.2561253del NCBI36
NG_008935.1:g.143457del , LRG_287:g.143457del

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.673del ENSP00000434560.2:p.Thr225ProfsTer?
ENST00000646564.2:c.490del ENSP00000495806.2:p.Thr164ProfsTer?
ENST00000155840.12:c.934del MANE Select ENSP00000155840.2:p.Thr312ProfsTer?
ENST00000335475.6:c.553del ENSP00000334497.5:p.Thr185ProfsTer?
ENST00000646564.1:c.136del ENSP00000495806.1:p.Thr46ProfsTer?
ENST00000155840.9:c.934del ENSP00000155840.2:p.Thr312ProfsTer?
ENST00000335475.5:c.553del ENSP00000334497.5:p.Thr185ProfsTer?
NM_000218.2:c.934del , LRG_287t1:c.934del NP_000209.2:p.Thr312ProfsTer?
NM_181798.1:c.553del , LRG_287t2:c.553del NP_861463.1:p.Thr185ProfsTer?
NM_000218.3:c.934del MANE Select NP_000209.2:p.Thr312ProfsTer?