Canonical Allele Identifier: CA007321
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53058
dbSNP Id: rs199472696
gnomAD v2: 11-2591900-C-T
gnomAD v3: 11-2570670-C-T
gnomAD v4: 11-2570670-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570670C>T , CM000673.2:g.2570670C>T GRCh38
NC_000011.9:g.2591900C>T , CM000673.1:g.2591900C>T GRCh37
NC_000011.8:g.2548476C>T NCBI36
NG_008935.1:g.130680C>T , LRG_287:g.130680C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.259C>T ENSP00000434560.2:p.Arg87Cys
ENST00000646564.2:c.478-12765C>T ENSP00000495806.2:n.478-12765C>T
ENST00000155840.12:c.520C>T MANE Select ENSP00000155840.2:p.Arg174Cys
ENST00000335475.6:c.139C>T ENSP00000334497.5:p.Arg47Cys
ENST00000646564.1:c.124-12765C>T ENSP00000495806.1:n.124-12765C>T
ENST00000155840.9:c.520C>T ENSP00000155840.2:p.Arg174Cys
ENST00000335475.5:c.139C>T ENSP00000334497.5:p.Arg47Cys
ENST00000496887.6:c.259C>T ENSP00000434560.1:p.Arg87Cys
NM_000218.2:c.520C>T , LRG_287t1:c.520C>T NP_000209.2:p.Arg174Cys
NM_181798.1:c.139C>T , LRG_287t2:c.139C>T NP_861463.1:p.Arg47Cys
NM_000218.3:c.520C>T MANE Select NP_000209.2:p.Arg174Cys