Canonical Allele Identifier: CA041155
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2572944C>A
GRCh37 chr11:g.2594174C>A
gnomAD v2:
11:2594174 C / A
gnomAD v3:
11:2572944 C / A
gnomAD v4:
chr11-2572944-C-A
Joint Max Group AF 0.00021962 (AFR)
Genomes Max Group AF 0.00025995 (AFR)
Exomes Max Group AF 0.0000975 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572944C>A , CM000673.2:g.2572944C>A GRCh38
NC_000011.9:g.2594174C>A , CM000673.1:g.2594174C>A GRCh37
NC_000011.8:g.2550750C>A NCBI36
NG_008935.1:g.132954C>A , LRG_287:g.132954C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.618C>A ENSP00000434560.2:p.Arg206=
ENST00000646564.2:c.478-10491C>A ENSP00000495806.2:n.478-10491C>A
ENST00000155840.12:c.879C>A MANE Select ENSP00000155840.2:p.Arg293=
ENST00000335475.6:c.498C>A ENSP00000334497.5:p.Arg166=
ENST00000646564.1:c.124-10491C>A ENSP00000495806.1:n.124-10491C>A
ENST00000155840.9:c.879C>A ENSP00000155840.2:p.Arg293=
ENST00000335475.5:c.498C>A ENSP00000334497.5:p.Arg166=
NM_000218.2:c.879C>A , LRG_287t1:c.879C>A NP_000209.2:p.Arg293=
NM_181798.1:c.498C>A , LRG_287t2:c.498C>A NP_861463.1:p.Arg166=
NM_000218.3:c.879C>A MANE Select NP_000209.2:p.Arg293=
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