Canonical Allele Identifier: CA2586288345
Gene: FTL HGNC NCBI

Linked Data

gnomAD v4: 19-48966177-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966177T>A , CM000681.2:g.48966177T>A GRCh38
NC_000019.9:g.49469434T>A , CM000681.1:g.49469434T>A GRCh37
NC_000019.8:g.54161246T>A NCBI36
NG_008152.1:g.5869T>A
NG_012923.1:g.32177A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.250-104T>A MANE Select ENSP00000366525.2:n.250-104T>A
ENST00000331825.10:c.250-104T>A ENSP00000366525.2:n.250-104T>A
ENST00000622577.2:c.250-104T>A ENSP00000484043.1:n.250-104T>A
NM_000146.3:c.250-104T>A NP_000137.2:n.250-104T>A
XM_024451447.1:c.760-104T>A XP_024307215.1:n.760-104T>A
NM_000146.4:c.250-104T>A MANE Select NP_000137.2:n.250-104T>A
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