Canonical Allele Identifier: CA008945
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2583478C>A
GRCh37 chr11:g.2604708C>A
Revel Score:
ENST00000155840 (MANE Select) 0.946
ENST00000335475 0.946
gnomAD v4:
chr11-2583478-C-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583478C>A , CM000673.2:g.2583478C>A GRCh38
NC_000011.9:g.2604708C>A , CM000673.1:g.2604708C>A GRCh37
NC_000011.8:g.2561284C>A NCBI36
NG_008935.1:g.143488C>A , LRG_287:g.143488C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.704C>A ENSP00000434560.2:p.Thr235Lys
ENST00000646564.2:c.521C>A ENSP00000495806.2:p.Thr174Lys
ENST00000155840.12:c.965C>A MANE Select ENSP00000155840.2:p.Thr322Lys
ENST00000335475.6:c.584C>A ENSP00000334497.5:p.Thr195Lys
ENST00000646564.1:c.167C>A ENSP00000495806.1:p.Thr56Lys
ENST00000155840.9:c.965C>A ENSP00000155840.2:p.Thr322Lys
ENST00000335475.5:c.584C>A ENSP00000334497.5:p.Thr195Lys
NM_000218.2:c.965C>A , LRG_287t1:c.965C>A NP_000209.2:p.Thr322Lys
NM_181798.1:c.584C>A , LRG_287t2:c.584C>A NP_861463.1:p.Thr195Lys
NM_000218.3:c.965C>A MANE Select NP_000209.2:p.Thr322Lys
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