Canonical Allele Identifier: CA2611999391
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2444889-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444889T>C , CM000673.2:g.2444889T>C GRCh38
NC_000011.9:g.2466119T>C , CM000673.1:g.2466119T>C GRCh37
NC_000011.8:g.2422695T>C NCBI36
NG_008935.1:g.4899T>C , LRG_287:g.4899T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+181T>C ENSP00000434560.2:n.23+181T>C
ENST00000496887.6:c.23+181T>C ENSP00000434560.1:n.23+181T>C
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