Canonical Allele Identifier: CA006772
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2445100T>C
GRCh37 chr11:g.2466330T>C
Revel Score:
ENST00000155840 (MANE Select) 0.590
gnomAD v4:
chr11-2445100-T-C
Joint Max Group AF 9e-7 (NFE)
Exomes Max Group AF 9.7e-7 (NFE)
ClinVar RCV:
RCV000057656
ClinVar Variation:
53033
dbSNP:
199473485
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445100T>C , CM000673.2:g.2445100T>C GRCh38
NC_000011.9:g.2466330T>C , CM000673.1:g.2466330T>C GRCh37
NC_000011.8:g.2422906T>C NCBI36
NG_008935.1:g.5110T>C , LRG_287:g.5110T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.24-283T>C ENSP00000434560.2:n.24-283T>C
ENST00000646564.2:c.2T>C ENSP00000495806.2:p.Met1Thr
ENST00000155840.12:c.2T>C MANE Select ENSP00000155840.2:p.Met1Thr
ENST00000155840.9:c.2T>C ENSP00000155840.2:p.Met1Thr
ENST00000496887.6:c.24-283T>C ENSP00000434560.1:n.24-283T>C
NM_000218.2:c.2T>C , LRG_287t1:c.2T>C NP_000209.2:p.Met1Thr
NM_000218.3:c.2T>C MANE Select NP_000209.2:p.Met1Thr
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