Canonical Allele Identifier: CA2340161583
Gene: FTL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966030T= , CM000681.2:g.48966030T= GRCh38
NC_000019.9:g.49469287T= , CM000681.1:g.49469287T= GRCh37
NC_000019.8:g.54161099T= NCBI36
NG_008152.1:g.5722T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.249+114T= MANE Select ENSP00000366525.2:n.249+114T=
ENST00000331825.10:c.249+114T= ENSP00000366525.2:n.249+114T=
ENST00000622577.2:c.249+114T= ENSP00000484043.1:n.249+114T=
NM_000146.3:c.249+114T= NP_000137.2:n.249+114T=
XM_024451447.1:c.759+114T= XP_024307215.1:n.759+114T=
NM_000146.4:c.249+114T= MANE Select NP_000137.2:n.249+114T=