Canonical Allele Identifier: CA15810791
Gene: CDKL1 HGNC NCBI

Linked Data

dbSNP Id: rs1265879
gnomAD v2: 14-50877983-A-G
gnomAD v3: 14-50411265-A-G
gnomAD v4: 14-50411265-A-G
MyVariant Identifiers: chr14:g.50877983A>G (hg19) chr14:g.50411265A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50411265A>G , CM000676.2:g.50411265A>G GRCh38
NC_000014.8:g.50877983A>G , CM000676.1:g.50877983A>G GRCh37
NC_000014.7:g.49947733A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356146.5:n.37-617T>C
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