Canonical Allele Identifier: CA2586288237
Gene: FTL HGNC NCBI

Linked Data

gnomAD v4: 19-48966063-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966063C>T , CM000681.2:g.48966063C>T GRCh38
NC_000019.9:g.49469320C>T , CM000681.1:g.49469320C>T GRCh37
NC_000019.8:g.54161132C>T NCBI36
NG_008152.1:g.5755C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.249+147C>T MANE Select ENSP00000366525.2:n.249+147C>T
ENST00000331825.10:c.249+147C>T ENSP00000366525.2:n.249+147C>T
ENST00000622577.2:c.249+147C>T ENSP00000484043.1:n.249+147C>T
NM_000146.3:c.249+147C>T NP_000137.2:n.249+147C>T
XM_024451447.1:c.759+147C>T XP_024307215.1:n.759+147C>T
NM_000146.4:c.249+147C>T MANE Select NP_000137.2:n.249+147C>T
Search 100 bp 5'
Search 100 bp 3'