Canonical Allele Identifier: CA281022
Gene: FTL HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.48966317G>A
GRCh37 chr19:g.49469574G>A
Revel Score:
ENST00000331825 (MANE Select) 0.573
ENST00000397259 0.573
gnomAD v2:
19:49469574 G / A
gnomAD v3:
19:48966317 G / A
gnomAD v4:
chr19-48966317-G-A
Joint Max Group AF 0.00000183 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV000017950
ClinVar Variation:
16486
dbSNP:
104894685
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966317G>A , CM000681.2:g.48966317G>A GRCh38
NC_000019.9:g.49469574G>A , CM000681.1:g.49469574G>A GRCh37
NC_000019.8:g.54161386G>A NCBI36
NG_008152.1:g.6009G>A
NG_012923.1:g.32037C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.286G>A MANE Select ENSP00000366525.2:p.Ala96Thr
ENST00000331825.10:c.286G>A ENSP00000366525.2:p.Ala96Thr
ENST00000622577.2:c.286G>A ENSP00000484043.1:p.Ala96Thr
NM_000146.3:c.286G>A NP_000137.2:p.Ala96Thr
XM_024451447.1:c.796G>A XP_024307215.1:p.Ala266Thr
NM_000146.4:c.286G>A MANE Select NP_000137.2:p.Ala96Thr
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