Canonical Allele Identifier: CA2586288219
Gene: FTL HGNC NCBI

Linked Data

gnomAD v4: 19-48966046-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966046C>A , CM000681.2:g.48966046C>A GRCh38
NC_000019.9:g.49469303C>A , CM000681.1:g.49469303C>A GRCh37
NC_000019.8:g.54161115C>A NCBI36
NG_008152.1:g.5738C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.249+130C>A MANE Select ENSP00000366525.2:n.249+130C>A
ENST00000331825.10:c.249+130C>A ENSP00000366525.2:n.249+130C>A
ENST00000622577.2:c.249+130C>A ENSP00000484043.1:n.249+130C>A
NM_000146.3:c.249+130C>A NP_000137.2:n.249+130C>A
XM_024451447.1:c.759+130C>A XP_024307215.1:n.759+130C>A
NM_000146.4:c.249+130C>A MANE Select NP_000137.2:n.249+130C>A
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