Canonical Allele Identifier: CA934455057
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1027279374
gnomAD v3: 11-2445025-C-G
gnomAD v4: 11-2445025-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445025C>G , CM000673.2:g.2445025C>G GRCh38
NC_000011.9:g.2466255C>G , CM000673.1:g.2466255C>G GRCh37
NC_000011.8:g.2422831C>G NCBI36
NG_008935.1:g.5035C>G , LRG_287:g.5035C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.23+317C>G ENSP00000434560.2:n.23+317C>G
ENST00000646564.2:c.-74C>G ENSP00000495806.2:n.-74C>G
ENST00000155840.12:c.-74C>G MANE Select ENSP00000155840.2:n.-74C>G
ENST00000155840.9:c.-74C>G ENSP00000155840.2:n.-74C>G
ENST00000496887.6:c.23+317C>G ENSP00000434560.1:n.23+317C>G
NM_000218.2:c.-74C>G , LRG_287t1:c.-74C>G NP_000209.2:n.-74C>G
NM_000218.3:c.-74C>G MANE Select NP_000209.2:n.-74C>G
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