Canonical Allele Identifier: CA216292292
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs550604716
gnomAD v3: 11-2444681-G-T
gnomAD v4: 11-2444681-G-T
MyVariant Identifiers: chr11:g.2465911G>T (hg19) chr11:g.2444681G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444681G>T , CM000673.2:g.2444681G>T GRCh38
NC_000011.9:g.2465911G>T , CM000673.1:g.2465911G>T GRCh37
NC_000011.8:g.2422487G>T NCBI36
NG_008935.1:g.4691G>T , LRG_287:g.4691G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.-5G>T ENSP00000434560.2:n.-5G>T
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