Canonical Allele Identifier: CA963038078
Gene: CDKL1 HGNC NCBI

Linked Data

dbSNP Id: rs2035569514
gnomAD v3: 14-50411241-G-C
gnomAD v4: 14-50411241-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50411241G>C , CM000676.2:g.50411241G>C GRCh38
NC_000014.8:g.50877959G>C , CM000676.1:g.50877959G>C GRCh37
NC_000014.7:g.49947709G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356146.5:n.37-593C>G
Search 100 bp 5'
Search 100 bp 3'