Canonical Allele Identifier: CA008972
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2583486G>A
GRCh37 chr11:g.2604716G>A
Revel Score:
ENST00000155840 (MANE Select) 0.975
ENST00000335475 0.975
gnomAD v4:
chr11-2583486-G-A
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583486G>A , CM000673.2:g.2583486G>A GRCh38
NC_000011.9:g.2604716G>A , CM000673.1:g.2604716G>A GRCh37
NC_000011.8:g.2561292G>A NCBI36
NG_008935.1:g.143496G>A , LRG_287:g.143496G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.712G>A ENSP00000434560.2:p.Gly238Arg
ENST00000646564.2:c.529G>A ENSP00000495806.2:p.Gly177Arg
ENST00000155840.12:c.973G>A MANE Select ENSP00000155840.2:p.Gly325Arg
ENST00000335475.6:c.592G>A ENSP00000334497.5:p.Gly198Arg
ENST00000646564.1:c.175G>A ENSP00000495806.1:p.Gly59Arg
ENST00000155840.9:c.973G>A ENSP00000155840.2:p.Gly325Arg
ENST00000335475.5:c.592G>A ENSP00000334497.5:p.Gly198Arg
NM_000218.2:c.973G>A , LRG_287t1:c.973G>A NP_000209.2:p.Gly325Arg
NM_181798.1:c.592G>A , LRG_287t2:c.592G>A NP_861463.1:p.Gly198Arg
NM_000218.3:c.973G>A MANE Select NP_000209.2:p.Gly325Arg
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