Canonical Allele Identifier: CA005679
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2588816G>A
GRCh37 chr11:g.2610046G>A
Revel Score:
ENST00000155840 (MANE Select) 0.644
ENST00000335475 0.644
gnomAD v2:
11:2610046 G / A
gnomAD v3:
11:2588816 G / A
gnomAD v4:
chr11-2588816-G-A
Joint Max Group AF 0.00019344 (NFE)
Genomes Max Group AF 0.00009049 (NFE)
Exomes Max Group AF 0.00019547 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2588816G>A , CM000673.2:g.2588816G>A GRCh38
NC_000011.9:g.2610046G>A , CM000673.1:g.2610046G>A GRCh37
NC_000011.8:g.2566622G>A NCBI36
NG_008935.1:g.148826G>A , LRG_287:g.148826G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.998G>A ENSP00000434560.2:p.Arg333Gln
ENST00000646564.2:c.815G>A ENSP00000495806.2:p.Arg272Gln
ENST00000155840.12:c.1355G>A MANE Select ENSP00000155840.2:p.Arg452Gln
ENST00000335475.6:c.974G>A ENSP00000334497.5:p.Arg325Gln
ENST00000646564.1:c.461G>A ENSP00000495806.1:p.Arg154Gln
ENST00000155840.9:c.1355G>A ENSP00000155840.2:p.Arg452Gln
ENST00000335475.5:c.974G>A ENSP00000334497.5:p.Arg325Gln
NM_000218.2:c.1355G>A , LRG_287t1:c.1355G>A NP_000209.2:p.Arg452Gln
NM_181798.1:c.974G>A , LRG_287t2:c.974G>A NP_861463.1:p.Arg325Gln
NM_000218.3:c.1355G>A MANE Select NP_000209.2:p.Arg452Gln
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