Canonical Allele Identifier: CA350383
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 220309
ClinVar RCV Id: RCV000206337
dbSNP Id: rs199473441
gnomAD v4: 11-2445099-A-T
MyVariant Identifiers: chr11:g.2466329A>T (hg19) chr11:g.2445099A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445099A>T , CM000673.2:g.2445099A>T GRCh38
NC_000011.9:g.2466329A>T , CM000673.1:g.2466329A>T GRCh37
NC_000011.8:g.2422905A>T NCBI36
NG_008935.1:g.5109A>T , LRG_287:g.5109A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-284A>T ENSP00000434560.2:n.24-284A>T
ENST00000646564.2:c.1A>T ENSP00000495806.2:p.Met1Leu
ENST00000155840.12:c.1A>T MANE Select ENSP00000155840.2:p.Met1Leu
ENST00000155840.9:c.1A>T ENSP00000155840.2:p.Met1Leu
ENST00000496887.6:c.24-284A>T ENSP00000434560.1:n.24-284A>T
NM_000218.2:c.1A>T , LRG_287t1:c.1A>T NP_000209.2:p.Met1Leu
NM_000218.3:c.1A>T MANE Select NP_000209.2:p.Met1Leu
Search 100 bp 5'
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