Canonical Allele Identifier: CA309376503
Gene: FTL HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.48966341G>C
GRCh37 chr19:g.49469598G>C
Revel Score:
ENST00000331825 (MANE Select) 0.749
ENST00000397259 0.749
gnomAD v3:
19:48966341 G / C
gnomAD v4:
chr19-48966341-G-C
Joint Max Group AF 0.00005787 (EAS)
Exomes Max Group AF 0.00004907 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966341G>C , CM000681.2:g.48966341G>C GRCh38
NC_000019.9:g.49469598G>C , CM000681.1:g.49469598G>C GRCh37
NC_000019.8:g.54161410G>C NCBI36
NG_008152.1:g.6033G>C
NG_012923.1:g.32013C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.310G>C MANE Select ENSP00000366525.2:p.Glu104Gln
ENST00000331825.10:c.310G>C ENSP00000366525.2:p.Glu104Gln
ENST00000622577.2:c.310G>C ENSP00000484043.1:p.Glu104Gln
NM_000146.3:c.310G>C NP_000137.2:p.Glu104Gln
XM_024451447.1:c.820G>C XP_024307215.1:p.Glu274Gln
NM_000146.4:c.310G>C MANE Select NP_000137.2:p.Glu104Gln
Search 100 bp 5'
Search 100 bp 3'