Canonical Allele Identifier: CA379115618
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1589883851
gnomAD v3: 11-2444702-T-C
gnomAD v4: 11-2444702-T-C
MyVariant Identifiers: chr11:g.2465932T>C (hg19) chr11:g.2444702T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444702T>C , CM000673.2:g.2444702T>C GRCh38
NC_000011.9:g.2465932T>C , CM000673.1:g.2465932T>C GRCh37
NC_000011.8:g.2422508T>C NCBI36
NG_008935.1:g.4712T>C , LRG_287:g.4712T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.17T>C ENSP00000434560.2:p.Leu6Pro
ENST00000496887.6:c.17T>C ENSP00000434560.1:p.Leu6Pro
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