Canonical Allele Identifier: CA597098454
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1389464317
gnomAD v2: 11-2466015-T-C
gnomAD v3: 11-2444785-T-C
gnomAD v4: 11-2444785-T-C
MyVariant Identifiers: chr11:g.2466015T>C (hg19) chr11:g.2444785T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444785T>C , CM000673.2:g.2444785T>C GRCh38
NC_000011.9:g.2466015T>C , CM000673.1:g.2466015T>C GRCh37
NC_000011.8:g.2422591T>C NCBI36
NG_008935.1:g.4795T>C , LRG_287:g.4795T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+77T>C ENSP00000434560.2:n.23+77T>C
ENST00000496887.6:c.23+77T>C ENSP00000434560.1:n.23+77T>C
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