Canonical Allele Identifier: CA149681
Gene: FTL HGNC NCBI

Linked Data

ClinVar Variation Id: 96689
dbSNP Id: rs139732572

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965508A>G , CM000681.2:g.48965508A>G GRCh38
NC_000019.9:g.49468765A>G , CM000681.1:g.49468765A>G GRCh37
NC_000019.8:g.54160577A>G NCBI36
NG_008152.1:g.5200A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000331825.11:c.1A>G MANE Select ENSP00000366525.2:p.Met1Val
ENST00000331825.10:c.1A>G ENSP00000366525.2:p.Met1Val
ENST00000622577.2:c.1A>G ENSP00000484043.1:p.Met1Val
NM_000146.3:c.1A>G NP_000137.2:p.Met1Val
XM_024451447.1:c.511A>G XP_024307215.1:p.Met171Val
NM_000146.4:c.1A>G MANE Select NP_000137.2:p.Met1Val