Canonical Allele Identifier: CA2590530724
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v3: 11-2444819-A-C
gnomAD v4: 11-2444819-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444819A>C , CM000673.2:g.2444819A>C GRCh38
NC_000011.9:g.2466049A>C , CM000673.1:g.2466049A>C GRCh37
NC_000011.8:g.2422625A>C NCBI36
NG_008935.1:g.4829A>C , LRG_287:g.4829A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+111A>C ENSP00000434560.2:n.23+111A>C
ENST00000496887.6:c.23+111A>C ENSP00000434560.1:n.23+111A>C
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