Canonical Allele Identifier: CA379117270
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 983021
ClinVar RCV Id: RCV001262825 RCV002436982 RCV002541598
dbSNP Id: rs1337409061
gnomAD v2: 11-2466615-C-G
gnomAD v3: 11-2445385-C-G
gnomAD v4: 11-2445385-C-G
MyVariant Identifiers: chr11:g.2466615C>G (hg19) chr11:g.2445385C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445385C>G , CM000673.2:g.2445385C>G GRCh38
NC_000011.9:g.2466615C>G , CM000673.1:g.2466615C>G GRCh37
NC_000011.8:g.2423191C>G NCBI36
NG_008935.1:g.5395C>G , LRG_287:g.5395C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.26C>G ENSP00000434560.2:p.Thr9Arg
ENST00000646564.2:c.287C>G ENSP00000495806.2:p.Thr96Arg
ENST00000155840.12:c.287C>G MANE Select ENSP00000155840.2:p.Thr96Arg
ENST00000155840.9:c.287C>G ENSP00000155840.2:p.Thr96Arg
ENST00000345015.4:n.64C>G
ENST00000496887.6:c.26C>G ENSP00000434560.1:p.Thr9Arg
NM_000218.2:c.287C>G , LRG_287t1:c.287C>G NP_000209.2:p.Thr96Arg
NM_000218.3:c.287C>G MANE Select NP_000209.2:p.Thr96Arg
Search 100 bp 5'
Search 100 bp 3'