Canonical Allele Identifier: CA934454966
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1589884016
gnomAD v3: 11-2444889-T-G
gnomAD v4: 11-2444889-T-G
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Genomic Alleles

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

Transcript Alleles

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