Canonical Allele Identifier: CA216292314
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs905799251
gnomAD v3: 11-2444821-A-G
gnomAD v4: 11-2444821-A-G
MyVariant Identifiers: chr11:g.2466051A>G (hg19) chr11:g.2444821A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444821A>G , CM000673.2:g.2444821A>G GRCh38
NC_000011.9:g.2466051A>G , CM000673.1:g.2466051A>G GRCh37
NC_000011.8:g.2422627A>G NCBI36
NG_008935.1:g.4831A>G , LRG_287:g.4831A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+113A>G ENSP00000434560.2:n.23+113A>G
ENST00000496887.6:c.23+113A>G ENSP00000434560.1:n.23+113A>G
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