Canonical Allele Identifier: CA006992
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67070
dbSNP Id: rs199472685
gnomAD v4: 11-2527942-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2527942T>C , CM000673.2:g.2527942T>C GRCh38
NC_000011.9:g.2549172T>C , CM000673.1:g.2549172T>C GRCh37
NC_000011.8:g.2505748T>C NCBI36
NG_008935.1:g.87952T>C , LRG_287:g.87952T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000380776.5:n.198T>C
ENST00000496887.7:c.140T>C ENSP00000434560.2:p.Leu47Pro
ENST00000646564.2:c.401T>C ENSP00000495806.2:p.Leu134Pro
ENST00000155840.12:c.401T>C MANE Select ENSP00000155840.2:p.Leu134Pro
ENST00000335475.6:c.20T>C ENSP00000334497.5:p.Leu7Pro
ENST00000646564.1:c.47T>C ENSP00000495806.1:p.Leu16Pro
ENST00000155840.9:c.401T>C ENSP00000155840.2:p.Leu134Pro
ENST00000335475.5:c.20T>C ENSP00000334497.5:p.Leu7Pro
ENST00000345015.4:n.270T>C
ENST00000380776.4:c.191T>C ENSP00000370153.4:p.Leu64Pro
ENST00000496887.6:c.140T>C ENSP00000434560.1:p.Leu47Pro
NM_000218.2:c.401T>C , LRG_287t1:c.401T>C NP_000209.2:p.Leu134Pro
NM_181798.1:c.20T>C , LRG_287t2:c.20T>C NP_861463.1:p.Leu7Pro
NM_000218.3:c.401T>C MANE Select NP_000209.2:p.Leu134Pro