Canonical Allele Identifier: CA2611999699
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2445076-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445076C>A , CM000673.2:g.2445076C>A GRCh38
NC_000011.9:g.2466306C>A , CM000673.1:g.2466306C>A GRCh37
NC_000011.8:g.2422882C>A NCBI36
NG_008935.1:g.5086C>A , LRG_287:g.5086C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-307C>A ENSP00000434560.2:n.24-307C>A
ENST00000646564.2:c.-23C>A ENSP00000495806.2:n.-23C>A
ENST00000155840.12:c.-23C>A MANE Select ENSP00000155840.2:n.-23C>A
ENST00000155840.9:c.-23C>A ENSP00000155840.2:n.-23C>A
ENST00000496887.6:c.24-307C>A ENSP00000434560.1:n.24-307C>A
NM_000218.2:c.-23C>A , LRG_287t1:c.-23C>A NP_000209.2:n.-23C>A
NM_000218.3:c.-23C>A MANE Select NP_000209.2:n.-23C>A
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