Canonical Allele Identifier: CA934455059
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1846012996
gnomAD v3: 11-2445026-G-T
gnomAD v4: 11-2445026-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445026G>T , CM000673.2:g.2445026G>T GRCh38
NC_000011.9:g.2466256G>T , CM000673.1:g.2466256G>T GRCh37
NC_000011.8:g.2422832G>T NCBI36
NG_008935.1:g.5036G>T , LRG_287:g.5036G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.23+318G>T ENSP00000434560.2:n.23+318G>T
ENST00000646564.2:c.-73G>T ENSP00000495806.2:n.-73G>T
ENST00000155840.12:c.-73G>T MANE Select ENSP00000155840.2:n.-73G>T
ENST00000155840.9:c.-73G>T ENSP00000155840.2:n.-73G>T
ENST00000496887.6:c.23+318G>T ENSP00000434560.1:n.23+318G>T
NM_000218.2:c.-73G>T , LRG_287t1:c.-73G>T NP_000209.2:n.-73G>T
NM_000218.3:c.-73G>T MANE Select NP_000209.2:n.-73G>T
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