Canonical Allele Identifier: CA2586287893
Gene: FTL HGNC NCBI

Linked Data

gnomAD v4: 19-48965242-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965242C>A , CM000681.2:g.48965242C>A GRCh38
NC_000019.9:g.49468499C>A , CM000681.1:g.49468499C>A GRCh37
NC_000019.8:g.54160311C>A NCBI36
NG_008152.1:g.4934C>A

Transcript Alleles

HGVS Amino-acid Change
XM_024451447.1:c.245C>A XP_024307215.1:p.Pro82His
Search 100 bp 5'
Search 100 bp 3'