Canonical Allele Identifier: CA674857681
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1470582834
gnomAD v4: 11-2444811-C-T
MyVariant Identifiers: chr11:g.2466041C>T (hg19) chr11:g.2444811C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444811C>T , CM000673.2:g.2444811C>T GRCh38
NC_000011.9:g.2466041C>T , CM000673.1:g.2466041C>T GRCh37
NC_000011.8:g.2422617C>T NCBI36
NG_008935.1:g.4821C>T , LRG_287:g.4821C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+103C>T ENSP00000434560.2:n.23+103C>T
ENST00000496887.6:c.23+103C>T ENSP00000434560.1:n.23+103C>T
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