Canonical Allele Identifier: CA674857490
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1250786538
gnomAD v4: 11-2444668-C-T
MyVariant Identifiers: chr11:g.2465898C>T (hg19) chr11:g.2444668C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444668C>T , CM000673.2:g.2444668C>T GRCh38
NC_000011.9:g.2465898C>T , CM000673.1:g.2465898C>T GRCh37
NC_000011.8:g.2422474C>T NCBI36
NG_008935.1:g.4678C>T , LRG_287:g.4678C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.-18C>T ENSP00000434560.2:n.-18C>T
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