Canonical Allele Identifier: CA004880
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2583535C>A
GRCh37 chr11:g.2604765C>A
Revel Score:
ENST00000155840 (MANE Select) 0.950
ENST00000335475 0.950
gnomAD v4:
chr11-2583535-C-A
Joint Max Group AF 0.000013 (NFE)
Exomes Max Group AF 0.00001379 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583535C>A , CM000673.2:g.2583535C>A GRCh38
NC_000011.9:g.2604765C>A , CM000673.1:g.2604765C>A GRCh37
NC_000011.8:g.2561341C>A NCBI36
NG_008935.1:g.143545C>A , LRG_287:g.143545C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.761C>A ENSP00000434560.2:p.Ala254Glu
ENST00000646564.2:c.578C>A ENSP00000495806.2:p.Ala193Glu
ENST00000155840.12:c.1022C>A MANE Select ENSP00000155840.2:p.Ala341Glu
ENST00000335475.6:c.641C>A ENSP00000334497.5:p.Ala214Glu
ENST00000646564.1:c.224C>A ENSP00000495806.1:p.Ala75Glu
ENST00000155840.9:c.1022C>A ENSP00000155840.2:p.Ala341Glu
ENST00000335475.5:c.641C>A ENSP00000334497.5:p.Ala214Glu
NM_000218.2:c.1022C>A , LRG_287t1:c.1022C>A NP_000209.2:p.Ala341Glu
NM_181798.1:c.641C>A , LRG_287t2:c.641C>A NP_861463.1:p.Ala214Glu
NM_000218.3:c.1022C>A MANE Select NP_000209.2:p.Ala341Glu
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