Canonical Allele Identifier: CA472416260
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1061030
ClinVar RCV Id: RCV001370539
dbSNP Id: rs1442231737
gnomAD v4: 11-2445440-C-A
MyVariant Identifiers: chr11:g.2466670C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445440C>A , CM000673.2:g.2445440C>A GRCh38
NC_000011.9:g.2466670C>A , CM000673.1:g.2466670C>A GRCh37
NC_000011.8:g.2423246C>A NCBI36
NG_008935.1:g.5450C>A , LRG_287:g.5450C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.81C>A ENSP00000434560.2:p.Leu27=
ENST00000646564.2:c.342C>A ENSP00000495806.2:p.Leu114=
ENST00000155840.12:c.342C>A MANE Select ENSP00000155840.2:p.Leu114=
ENST00000155840.9:c.342C>A ENSP00000155840.2:p.Leu114=
ENST00000345015.4:n.119C>A
ENST00000496887.6:c.81C>A ENSP00000434560.1:p.Leu27=
NM_000218.2:c.342C>A , LRG_287t1:c.342C>A NP_000209.2:p.Leu114=
NM_000218.3:c.342C>A MANE Select NP_000209.2:p.Leu114=
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