Canonical Allele Identifier: CA2611999560
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2445024-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445024G>A , CM000673.2:g.2445024G>A GRCh38
NC_000011.9:g.2466254G>A , CM000673.1:g.2466254G>A GRCh37
NC_000011.8:g.2422830G>A NCBI36
NG_008935.1:g.5034G>A , LRG_287:g.5034G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.23+316G>A ENSP00000434560.2:n.23+316G>A
ENST00000646564.2:c.-75G>A ENSP00000495806.2:n.-75G>A
ENST00000155840.12:c.-75G>A MANE Select ENSP00000155840.2:n.-75G>A
ENST00000155840.9:c.-75G>A ENSP00000155840.2:n.-75G>A
ENST00000496887.6:c.23+316G>A ENSP00000434560.1:n.23+316G>A
NM_000218.2:c.-75G>A , LRG_287t1:c.-75G>A NP_000209.2:n.-75G>A
NM_000218.3:c.-75G>A MANE Select NP_000209.2:n.-75G>A
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