Canonical Allele Identifier: CA008278
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3144
dbSNP Id: rs120074193
gnomAD v2: 11-2594100-G-A
gnomAD v3: 11-2572870-G-A
gnomAD v4: 11-2572870-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572870G>A , CM000673.2:g.2572870G>A GRCh38
NC_000011.9:g.2594100G>A , CM000673.1:g.2594100G>A GRCh37
NC_000011.8:g.2550676G>A NCBI36
NG_008935.1:g.132880G>A , LRG_287:g.132880G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.544G>A ENSP00000434560.2:p.Gly182Ser
ENST00000646564.2:c.478-10565G>A ENSP00000495806.2:n.478-10565G>A
ENST00000155840.12:c.805G>A MANE Select ENSP00000155840.2:p.Gly269Ser
ENST00000335475.6:c.424G>A ENSP00000334497.5:p.Gly142Ser
ENST00000646564.1:c.124-10565G>A ENSP00000495806.1:n.124-10565G>A
ENST00000155840.9:c.805G>A ENSP00000155840.2:p.Gly269Ser
ENST00000335475.5:c.424G>A ENSP00000334497.5:p.Gly142Ser
ENST00000496887.6:c.544G>A ENSP00000434560.1:p.Gly182Ser
NM_000218.2:c.805G>A , LRG_287t1:c.805G>A NP_000209.2:p.Gly269Ser
NM_181798.1:c.424G>A , LRG_287t2:c.424G>A NP_861463.1:p.Gly142Ser
NM_000218.3:c.805G>A MANE Select NP_000209.2:p.Gly269Ser