Canonical Allele Identifier: CA126551
Gene: FTL HGNC NCBI

Linked Data

ClinVar Variation Id: 16475
ClinVar RCV Id: RCV000017939
dbSNP Id: rs398124634
MyVariant Identifiers: chr19:g.49468606G>C (hg19) chr19:g.48965349G>C (hg38)
PubMed: PMID:7492760 PMID:7669675 PMID:8781450 PMID:23421845
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965349G>C , CM000681.2:g.48965349G>C GRCh38
NC_000019.9:g.49468606G>C , CM000681.1:g.49468606G>C GRCh37
NC_000019.8:g.54160418G>C NCBI36
NG_008152.1:g.5041G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.-159G>C MANE Select ENSP00000366525.2:n.-159G>C
ENST00000331825.10:c.-159G>C ENSP00000366525.2:n.-159G>C
ENST00000622577.2:c.-159G>C ENSP00000484043.1:n.-159G>C
NM_000146.3:c.-159G>C NP_000137.2:n.-159G>C
XM_024451447.1:c.352G>C XP_024307215.1:p.Val118Leu
NM_000146.4:c.-159G>C MANE Select NP_000137.2:n.-159G>C
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