Canonical Allele Identifier: CA934454798
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1846005004
gnomAD v3: 11-2444813-G-A
gnomAD v4: 11-2444813-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444813G>A , CM000673.2:g.2444813G>A GRCh38
NC_000011.9:g.2466043G>A , CM000673.1:g.2466043G>A GRCh37
NC_000011.8:g.2422619G>A NCBI36
NG_008935.1:g.4823G>A , LRG_287:g.4823G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+105G>A ENSP00000434560.2:n.23+105G>A
ENST00000496887.6:c.23+105G>A ENSP00000434560.1:n.23+105G>A
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