Canonical Allele Identifier: CA674857604
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1296202377
gnomAD v3: 11-2444732-T-G
gnomAD v4: 11-2444732-T-G
MyVariant Identifiers: chr11:g.2465962T>G (hg19) chr11:g.2444732T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444732T>G , CM000673.2:g.2444732T>G GRCh38
NC_000011.9:g.2465962T>G , CM000673.1:g.2465962T>G GRCh37
NC_000011.8:g.2422538T>G NCBI36
NG_008935.1:g.4742T>G , LRG_287:g.4742T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+24T>G ENSP00000434560.2:n.23+24T>G
ENST00000496887.6:c.23+24T>G ENSP00000434560.1:n.23+24T>G
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