Canonical Allele Identifier: CA007497
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2570716G>A
GRCh37 chr11:g.2591946G>A
Revel Score:
ENST00000496887 0.942
ENST00000155840 (MANE Select) 0.942
ENST00000335475 0.942
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570716G>A , CM000673.2:g.2570716G>A GRCh38
NC_000011.9:g.2591946G>A , CM000673.1:g.2591946G>A GRCh37
NC_000011.8:g.2548522G>A NCBI36
NG_008935.1:g.130726G>A , LRG_287:g.130726G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.305G>A ENSP00000434560.2:p.Gly102Glu
ENST00000646564.2:c.478-12719G>A ENSP00000495806.2:n.478-12719G>A
ENST00000155840.12:c.566G>A MANE Select ENSP00000155840.2:p.Gly189Glu
ENST00000335475.6:c.185G>A ENSP00000334497.5:p.Gly62Glu
ENST00000646564.1:c.124-12719G>A ENSP00000495806.1:n.124-12719G>A
ENST00000155840.9:c.566G>A ENSP00000155840.2:p.Gly189Glu
ENST00000335475.5:c.185G>A ENSP00000334497.5:p.Gly62Glu
ENST00000496887.6:c.305G>A ENSP00000434560.1:p.Gly102Glu
NM_000218.2:c.566G>A , LRG_287t1:c.566G>A NP_000209.2:p.Gly189Glu
NM_181798.1:c.185G>A , LRG_287t2:c.185G>A NP_861463.1:p.Gly62Glu
NM_000218.3:c.566G>A MANE Select NP_000209.2:p.Gly189Glu
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