Canonical Allele Identifier: CA883052094
Gene: FTL HGNC NCBI

Linked Data

ClinVar Variation Id: 2945666
ClinVar RCV Id: RCV003803760
dbSNP Id: rs1318499287
gnomAD v4: 19-48965329-G-A
MyVariant Identifiers: chr19:g.49468586G>A (hg19) chr19:g.48965329G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965329G>A , CM000681.2:g.48965329G>A GRCh38
NC_000019.9:g.49468586G>A , CM000681.1:g.49468586G>A GRCh37
NC_000019.8:g.54160398G>A NCBI36
NG_008152.1:g.5021G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.-179G>A MANE Select ENSP00000366525.2:n.-179G>A
ENST00000331825.10:c.-179G>A ENSP00000366525.2:n.-179G>A
ENST00000622577.2:c.-179G>A ENSP00000484043.1:n.-179G>A
NM_000146.3:c.-179G>A NP_000137.2:n.-179G>A
XM_024451447.1:c.332G>A XP_024307215.1:p.Gly111Asp
NM_000146.4:c.-179G>A MANE Select NP_000137.2:n.-179G>A
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