Canonical Allele Identifier: CA2611999321
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2444817-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444817G>C , CM000673.2:g.2444817G>C GRCh38
NC_000011.9:g.2466047G>C , CM000673.1:g.2466047G>C GRCh37
NC_000011.8:g.2422623G>C NCBI36
NG_008935.1:g.4827G>C , LRG_287:g.4827G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+109G>C ENSP00000434560.2:n.23+109G>C
ENST00000496887.6:c.23+109G>C ENSP00000434560.1:n.23+109G>C
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