Canonical Allele Identifier: CA379121257
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2527947T>C , CM000673.2:g.2527947T>C GRCh38
NC_000011.9:g.2549177T>C , CM000673.1:g.2549177T>C GRCh37
NC_000011.8:g.2505753T>C NCBI36
NG_008935.1:g.87957T>C , LRG_287:g.87957T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380776.5:n.203T>C
ENST00000496887.7:c.145T>C ENSP00000434560.2:p.Cys49Arg
ENST00000646564.2:c.406T>C ENSP00000495806.2:p.Cys136Arg
ENST00000155840.12:c.406T>C MANE Select ENSP00000155840.2:p.Cys136Arg
ENST00000335475.6:c.25T>C ENSP00000334497.5:p.Cys9Arg
ENST00000646564.1:c.52T>C ENSP00000495806.1:p.Cys18Arg
ENST00000155840.9:c.406T>C ENSP00000155840.2:p.Cys136Arg
ENST00000335475.5:c.25T>C ENSP00000334497.5:p.Cys9Arg
ENST00000345015.4:n.275T>C
ENST00000380776.4:c.196T>C ENSP00000370153.4:p.Cys66Arg
ENST00000496887.6:c.145T>C ENSP00000434560.1:p.Cys49Arg
NM_000218.2:c.406T>C , LRG_287t1:c.406T>C NP_000209.2:p.Cys136Arg
NM_181798.1:c.25T>C , LRG_287t2:c.25T>C NP_861463.1:p.Cys9Arg
NM_000218.3:c.406T>C MANE Select NP_000209.2:p.Cys136Arg