Canonical Allele Identifier: CA10638245
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 304214
ClinVar RCV Id: RCV000263850 RCV000267409 RCV000322550 RCV000361952 RCV000376919
dbSNP Id: rs886048161
gnomAD v4: 11-2445127-C-A
MyVariant Identifiers: chr11:g.2466357C>A (hg19) chr11:g.2445127C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445127C>A , CM000673.2:g.2445127C>A GRCh38
NC_000011.9:g.2466357C>A , CM000673.1:g.2466357C>A GRCh37
NC_000011.8:g.2422933C>A NCBI36
NG_008935.1:g.5137C>A , LRG_287:g.5137C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-256C>A ENSP00000434560.2:n.24-256C>A
ENST00000646564.2:c.29C>A ENSP00000495806.2:p.Ala10Asp
ENST00000155840.12:c.29C>A MANE Select ENSP00000155840.2:p.Ala10Asp
ENST00000155840.9:c.29C>A ENSP00000155840.2:p.Ala10Asp
ENST00000496887.6:c.24-256C>A ENSP00000434560.1:n.24-256C>A
NM_000218.2:c.29C>A , LRG_287t1:c.29C>A NP_000209.2:p.Ala10Asp
NM_000218.3:c.29C>A MANE Select NP_000209.2:p.Ala10Asp
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