Canonical Allele Identifier: CA379116855
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2445331-A-G
MyVariant Identifiers: chr11:g.2466561A>G (hg19) chr11:g.2445331A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445331A>G , CM000673.2:g.2445331A>G GRCh38
NC_000011.9:g.2466561A>G , CM000673.1:g.2466561A>G GRCh37
NC_000011.8:g.2423137A>G NCBI36
NG_008935.1:g.5341A>G , LRG_287:g.5341A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-52A>G ENSP00000434560.2:n.24-52A>G
ENST00000646564.2:c.233A>G ENSP00000495806.2:p.Asp78Gly
ENST00000155840.12:c.233A>G MANE Select ENSP00000155840.2:p.Asp78Gly
ENST00000155840.9:c.233A>G ENSP00000155840.2:p.Asp78Gly
ENST00000345015.4:n.10A>G
ENST00000496887.6:c.24-52A>G ENSP00000434560.1:n.24-52A>G
NM_000218.2:c.233A>G , LRG_287t1:c.233A>G NP_000209.2:p.Asp78Gly
NM_000218.3:c.233A>G MANE Select NP_000209.2:p.Asp78Gly
Search 100 bp 5'
Search 100 bp 3'