Canonical Allele Identifier: CA040285
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 289705
dbSNP Id: rs752457145
gnomAD v2: 11-2593318-C-T
gnomAD v3: 11-2572088-C-T
gnomAD v4: 11-2572088-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572088C>T , CM000673.2:g.2572088C>T GRCh38
NC_000011.9:g.2593318C>T , CM000673.1:g.2593318C>T GRCh37
NC_000011.8:g.2549894C>T NCBI36
NG_008935.1:g.132098C>T , LRG_287:g.132098C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.498C>T ENSP00000434560.2:p.Ser166=
ENST00000646564.2:c.478-11347C>T ENSP00000495806.2:n.478-11347C>T
ENST00000155840.12:c.759C>T MANE Select ENSP00000155840.2:p.Ser253=
ENST00000335475.6:c.378C>T ENSP00000334497.5:p.Ser126=
ENST00000646564.1:c.124-11347C>T ENSP00000495806.1:n.124-11347C>T
ENST00000155840.9:c.759C>T ENSP00000155840.2:p.Ser253=
ENST00000335475.5:c.378C>T ENSP00000334497.5:p.Ser126=
ENST00000496887.6:c.498C>T ENSP00000434560.1:p.Ser166=
NM_000218.2:c.759C>T , LRG_287t1:c.759C>T NP_000209.2:p.Ser253=
NM_181798.1:c.378C>T , LRG_287t2:c.378C>T NP_861463.1:p.Ser126=
NM_000218.3:c.759C>T MANE Select NP_000209.2:p.Ser253=