Canonical Allele Identifier: CA211321
Gene: FTL HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.48965836G>A
GRCh37 chr19:g.49469093G>A
Revel Score:
ENST00000331825 (MANE Select) 0.056
ENST00000397259 0.056
gnomAD v2:
19:49469093 G / A
gnomAD v3:
19:48965836 G / A
gnomAD v4:
chr19-48965836-G-A
Joint Max Group AF 0.00001454 (NFE)
Genomes Max Group AF 0.0000117 (NFE)
Exomes Max Group AF 0.00001295 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965836G>A , CM000681.2:g.48965836G>A GRCh38
NC_000019.9:g.49469093G>A , CM000681.1:g.49469093G>A GRCh37
NC_000019.8:g.54160905G>A NCBI36
NG_008152.1:g.5528G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.169G>A MANE Select ENSP00000366525.2:p.Glu57Lys
ENST00000331825.10:c.169G>A ENSP00000366525.2:p.Glu57Lys
ENST00000622577.2:c.169G>A ENSP00000484043.1:p.Glu57Lys
NM_000146.3:c.169G>A NP_000137.2:p.Glu57Lys
XM_024451447.1:c.679G>A XP_024307215.1:p.Glu227Lys
NM_000146.4:c.169G>A MANE Select NP_000137.2:p.Glu57Lys
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