Canonical Allele Identifier: CA1948160203
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1846006809
gnomAD v4: 11-2444836-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444836G>T , CM000673.2:g.2444836G>T GRCh38
NC_000011.9:g.2466066G>T , CM000673.1:g.2466066G>T GRCh37
NC_000011.8:g.2422642G>T NCBI36
NG_008935.1:g.4846G>T , LRG_287:g.4846G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+128G>T ENSP00000434560.2:n.23+128G>T
ENST00000496887.6:c.23+128G>T ENSP00000434560.1:n.23+128G>T
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