Canonical Allele Identifier: CA005498
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67021
dbSNP Id: rs199472777
gnomAD v4: 11-2587634-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2587634A>G , CM000673.2:g.2587634A>G GRCh38
NC_000011.9:g.2608864A>G , CM000673.1:g.2608864A>G GRCh37
NC_000011.8:g.2565440A>G NCBI36
NG_008935.1:g.147644A>G , LRG_287:g.147644A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.836A>G ENSP00000434560.2:p.Lys279Arg
ENST00000646564.2:c.653A>G ENSP00000495806.2:p.Lys218Arg
ENST00000155840.12:c.1193A>G MANE Select ENSP00000155840.2:p.Lys398Arg
ENST00000335475.6:c.812A>G ENSP00000334497.5:p.Lys271Arg
ENST00000646564.1:c.299A>G ENSP00000495806.1:p.Lys100Arg
ENST00000155840.9:c.1193A>G ENSP00000155840.2:p.Lys398Arg
ENST00000335475.5:c.812A>G ENSP00000334497.5:p.Lys271Arg
NM_000218.2:c.1193A>G , LRG_287t1:c.1193A>G NP_000209.2:p.Lys398Arg
NM_181798.1:c.812A>G , LRG_287t2:c.812A>G NP_861463.1:p.Lys271Arg
NM_000218.3:c.1193A>G MANE Select NP_000209.2:p.Lys398Arg