Canonical Allele Identifier: CA2340161784
Gene: FTL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966410C= , CM000681.2:g.48966410C= GRCh38
NC_000019.9:g.49469667C= , CM000681.1:g.49469667C= GRCh37
NC_000019.8:g.54161479C= NCBI36
NG_008152.1:g.6102C=
NG_012923.1:g.31944G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.375+4C= MANE Select ENSP00000366525.2:n.375+4C=
ENST00000331825.10:c.375+4C= ENSP00000366525.2:n.375+4C=
ENST00000622577.2:c.375+4C= ENSP00000484043.1:n.375+4C=
NM_000146.3:c.375+4C= NP_000137.2:n.375+4C=
XM_024451447.1:c.885+4C= XP_024307215.1:n.885+4C=
NM_000146.4:c.375+4C= MANE Select NP_000137.2:n.375+4C=