Canonical Allele Identifier: CA004825
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 52928
dbSNP Id: rs199472758

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583526C>T , CM000673.2:g.2583526C>T GRCh38
NC_000011.9:g.2604756C>T , CM000673.1:g.2604756C>T GRCh37
NC_000011.8:g.2561332C>T NCBI36
NG_008935.1:g.143536C>T , LRG_287:g.143536C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.752C>T ENSP00000434560.2:p.Ser251Phe
ENST00000646564.2:c.569C>T ENSP00000495806.2:p.Ser190Phe
ENST00000155840.12:c.1013C>T MANE Select ENSP00000155840.2:p.Ser338Phe
ENST00000335475.6:c.632C>T ENSP00000334497.5:p.Ser211Phe
ENST00000646564.1:c.215C>T ENSP00000495806.1:p.Ser72Phe
ENST00000155840.9:c.1013C>T ENSP00000155840.2:p.Ser338Phe
ENST00000335475.5:c.632C>T ENSP00000334497.5:p.Ser211Phe
NM_000218.2:c.1013C>T , LRG_287t1:c.1013C>T NP_000209.2:p.Ser338Phe
NM_181798.1:c.632C>T , LRG_287t2:c.632C>T NP_861463.1:p.Ser211Phe
NM_000218.3:c.1013C>T MANE Select NP_000209.2:p.Ser338Phe