Canonical Allele Identifier: CA007208
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2570628G>A
GRCh37 chr11:g.2591858G>A
Revel Score:
ENST00000496887 0.921
ENST00000155840 (MANE Select) 0.921
ENST00000335475 0.921
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570628G>A , CM000673.2:g.2570628G>A GRCh38
NC_000011.9:g.2591858G>A , CM000673.1:g.2591858G>A GRCh37
NC_000011.8:g.2548434G>A NCBI36
NG_008935.1:g.130638G>A , LRG_287:g.130638G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.217G>A ENSP00000434560.2:p.Glu73Lys
ENST00000646564.2:c.478-12807G>A ENSP00000495806.2:n.478-12807G>A
ENST00000155840.12:c.478G>A MANE Select ENSP00000155840.2:p.Glu160Lys
ENST00000335475.6:c.97G>A ENSP00000334497.5:p.Glu33Lys
ENST00000646564.1:c.124-12807G>A ENSP00000495806.1:n.124-12807G>A
ENST00000155840.9:c.478G>A ENSP00000155840.2:p.Glu160Lys
ENST00000335475.5:c.97G>A ENSP00000334497.5:p.Glu33Lys
ENST00000496887.6:c.217G>A ENSP00000434560.1:p.Glu73Lys
NM_000218.2:c.478G>A , LRG_287t1:c.478G>A NP_000209.2:p.Glu160Lys
NM_181798.1:c.97G>A , LRG_287t2:c.97G>A NP_861463.1:p.Glu33Lys
NM_000218.3:c.478G>A MANE Select NP_000209.2:p.Glu160Lys
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