Canonical Allele Identifier: CA379115578
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1846001157
gnomAD v3: 11-2444689-A-T
gnomAD v4: 11-2444689-A-T
MyVariant Identifiers: chr11:g.2465919A>T (hg19) chr11:g.2444689A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444689A>T , CM000673.2:g.2444689A>T GRCh38
NC_000011.9:g.2465919A>T , CM000673.1:g.2465919A>T GRCh37
NC_000011.8:g.2422495A>T NCBI36
NG_008935.1:g.4699A>T , LRG_287:g.4699A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.4A>T ENSP00000434560.2:p.Thr2Ser
ENST00000496887.6:c.4A>T ENSP00000434560.1:p.Thr2Ser
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