Canonical Allele Identifier: CA406755839
Gene: FTL HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.48965596C>A
GRCh37 chr19:g.49468853C>A
Revel Score:
ENST00000331825 (MANE Select) 0.337
ENST00000397259 0.337
gnomAD v2:
19:49468853 C / A
gnomAD v4:
chr19-48965596-C-A
Joint Max Group AF 0.00000615 (NFE)
Exomes Max Group AF 0.00000653 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965596C>A , CM000681.2:g.48965596C>A GRCh38
NC_000019.9:g.49468853C>A , CM000681.1:g.49468853C>A GRCh37
NC_000019.8:g.54160665C>A NCBI36
NG_008152.1:g.5288C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.89C>A MANE Select ENSP00000366525.2:p.Thr30Asn
ENST00000331825.10:c.89C>A ENSP00000366525.2:p.Thr30Asn
ENST00000622577.2:c.89C>A ENSP00000484043.1:p.Thr30Asn
NM_000146.3:c.89C>A NP_000137.2:p.Thr30Asn
XM_024451447.1:c.599C>A XP_024307215.1:p.Thr200Asn
NM_000146.4:c.89C>A MANE Select NP_000137.2:p.Thr30Asn
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