Canonical Allele Identifier: CA211321
Gene: FTL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 156439
dbSNP Id: rs201241191

User contributed link-outs

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000331825.10:c.169G>A ENSP00000366525.2:p.Glu57Lys
ENST00000622577.2:c.169G>A ENSP00000484043.1:p.Glu57Lys
NM_000146.3:c.169G>A VV NP_000137.2:p.Glu57Lys