Canonical Allele Identifier: CA934455062
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1846013022
gnomAD v3: 11-2445026-G-GC
gnomAD v4: 11-2445026-G-GC
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445029dup , CM000673.2:g.2445029dup GRCh38
NC_000011.9:g.2466259dup , CM000673.1:g.2466259dup GRCh37
NC_000011.8:g.2422835dup NCBI36
NG_008935.1:g.5039dup , LRG_287:g.5039dup

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.23+321dup ENSP00000434560.2:n.23+321dup
ENST00000646564.2:c.-70dup ENSP00000495806.2:n.-70dup
ENST00000155840.12:c.-70dup MANE Select ENSP00000155840.2:n.-70dup
ENST00000155840.9:c.-70dup ENSP00000155840.2:n.-70dup
ENST00000496887.6:c.23+321dup ENSP00000434560.1:n.23+321dup
NM_000218.2:c.-70dup , LRG_287t1:c.-70dup NP_000209.2:n.-70dup
NM_000218.3:c.-70dup MANE Select NP_000209.2:n.-70dup
Search 100 bp 5'
Search 100 bp 3'