Canonical Allele Identifier: CA126556
Gene: FTL HGNC NCBI

Linked Data

ClinVar Variation Id: 16481
dbSNP Id: rs398124637

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965344C>A , CM000681.2:g.48965344C>A GRCh38
NC_000019.9:g.49468601C>A , CM000681.1:g.49468601C>A GRCh37
NC_000019.8:g.54160413C>A NCBI36
NG_008152.1:g.5036C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.-164C>A MANE Select ENSP00000366525.2:n.-164C>A
ENST00000331825.10:c.-164C>A ENSP00000366525.2:n.-164C>A
ENST00000622577.2:c.-164C>A ENSP00000484043.1:n.-164C>A
NM_000146.3:c.-164C>A NP_000137.2:n.-164C>A
XM_024451447.1:c.347C>A XP_024307215.1:p.Ser116Ter
NM_000146.4:c.-164C>A MANE Select NP_000137.2:n.-164C>A