Canonical Allele Identifier: CA004897
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3121
dbSNP Id: rs12720459
COSMIC: COSM687668

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583535C>T , CM000673.2:g.2583535C>T GRCh38
NC_000011.9:g.2604765C>T , CM000673.1:g.2604765C>T GRCh37
NC_000011.8:g.2561341C>T NCBI36
NG_008935.1:g.143545C>T , LRG_287:g.143545C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000155840.12:c.1022C>T MANE Select ENSP00000155840.2:p.Ala341Val
ENST00000335475.6:c.641C>T ENSP00000334497.5:p.Ala214Val
ENST00000646564.1:n.224C>T ENSP00000495806.1:p.Ala75Val
ENST00000155840.9:c.1022C>T ENSP00000155840.2:p.Ala341Val
ENST00000335475.5:c.641C>T ENSP00000334497.5:p.Ala214Val
NM_000218.2:c.1022C>T , LRG_287t1:c.1022C>T NP_000209.2:p.Ala341Val
NM_181798.1:c.641C>T , LRG_287t2:c.641C>T NP_861463.1:p.Ala214Val
NM_000218.3:c.1022C>T MANE Select NP_000209.2:p.Ala341Val