Canonical Allele Identifier: CA005300
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2585290G>A
GRCh37 chr11:g.2606520G>A
Revel Score:
ENST00000155840 (MANE Select) 0.953
ENST00000335475 0.953
ClinVar Allele:
67627
ClinVar RCV:
RCV000057555
ClinVar Variation:
52959
dbSNP:
199473412
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2585290G>A , CM000673.2:g.2585290G>A GRCh38
NC_000011.9:g.2606520G>A , CM000673.1:g.2606520G>A GRCh37
NC_000011.8:g.2563096G>A NCBI36
NG_008935.1:g.145300G>A , LRG_287:g.145300G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.771+1745G>A ENSP00000434560.2:n.771+1745G>A
ENST00000646564.2:c.588+1745G>A ENSP00000495806.2:n.588+1745G>A
ENST00000155840.12:c.1111G>A MANE Select ENSP00000155840.2:p.Ala371Thr
ENST00000335475.6:c.730G>A ENSP00000334497.5:p.Ala244Thr
ENST00000646564.1:c.234+1745G>A ENSP00000495806.1:n.234+1745G>A
ENST00000155840.9:c.1111G>A ENSP00000155840.2:p.Ala371Thr
ENST00000335475.5:c.730G>A ENSP00000334497.5:p.Ala244Thr
NM_000218.2:c.1111G>A , LRG_287t1:c.1111G>A NP_000209.2:p.Ala371Thr
NM_181798.1:c.730G>A , LRG_287t2:c.730G>A NP_861463.1:p.Ala244Thr
NM_000218.3:c.1111G>A MANE Select NP_000209.2:p.Ala371Thr
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