Canonical Allele Identifier: CA027900
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2587705C>A
GRCh37 chr11:g.2608935C>A
gnomAD v2:
11:2608935 C / A
gnomAD v3:
11:2587705 C / A
gnomAD v4:
chr11-2587705-C-A
Joint Max Group AF 0.00043623 (AFR)
Genomes Max Group AF 0.00033758 (AFR)
Exomes Max Group AF 0.00044389 (AFR)
ClinVar RCV:
RCV000606380
RCV002065274
ClinVar Variation:
511969
dbSNP:
201364493
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2587705C>A , CM000673.2:g.2587705C>A GRCh38
NC_000011.9:g.2608935C>A , CM000673.1:g.2608935C>A GRCh37
NC_000011.8:g.2565511C>A NCBI36
NG_008935.1:g.147715C>A , LRG_287:g.147715C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.894+13C>A ENSP00000434560.2:n.894+13C>A
ENST00000646564.2:c.711+13C>A ENSP00000495806.2:n.711+13C>A
ENST00000155840.12:c.1251+13C>A MANE Select ENSP00000155840.2:n.1251+13C>A
ENST00000335475.6:c.870+13C>A ENSP00000334497.5:n.870+13C>A
ENST00000646564.1:c.357+13C>A ENSP00000495806.1:n.357+13C>A
ENST00000155840.9:c.1251+13C>A ENSP00000155840.2:n.1251+13C>A
ENST00000335475.5:c.870+13C>A ENSP00000334497.5:n.870+13C>A
NM_000218.2:c.1251+13C>A , LRG_287t1:c.1251+13C>A NP_000209.2:n.1251+13C>A
NM_181798.1:c.870+13C>A , LRG_287t2:c.870+13C>A NP_861463.1:n.870+13C>A
NM_000218.3:c.1251+13C>A MANE Select NP_000209.2:n.1251+13C>A
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