Canonical Allele Identifier: CA2573156629
Gene: FTL HGNC NCBI

Linked Data

ClinVar Variation Id: 1416345
ClinVar RCV Id: RCV001935663
dbSNP Id: rs2122429714

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965338T>C , CM000681.2:g.48965338T>C GRCh38
NC_000019.9:g.49468595T>C , CM000681.1:g.49468595T>C GRCh37
NC_000019.8:g.54160407T>C NCBI36
NG_008152.1:g.5030T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.-170T>C MANE Select ENSP00000366525.2:n.-170T>C
ENST00000331825.10:c.-170T>C ENSP00000366525.2:n.-170T>C
ENST00000622577.2:c.-170T>C ENSP00000484043.1:n.-170T>C
NM_000146.3:c.-170T>C NP_000137.2:n.-170T>C
XM_024451447.1:c.341T>C XP_024307215.1:p.Leu114Pro
NM_000146.4:c.-170T>C MANE Select NP_000137.2:n.-170T>C