Canonical Allele Identifier: CA1139666527
Gene: FTL HGNC NCBI

Linked Data

ClinVar Variation Id: 963917
dbSNP Id: rs2038438402

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965341C>T , CM000681.2:g.48965341C>T GRCh38
NC_000019.9:g.49468598C>T , CM000681.1:g.49468598C>T GRCh37
NC_000019.8:g.54160410C>T NCBI36
NG_008152.1:g.5033C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.-167C>T MANE Select ENSP00000366525.2:n.-167C>T
ENST00000331825.10:c.-167C>T ENSP00000366525.2:n.-167C>T
ENST00000622577.2:c.-167C>T ENSP00000484043.1:n.-167C>T
NM_000146.3:c.-167C>T NP_000137.2:n.-167C>T
XM_024451447.1:c.344C>T XP_024307215.1:p.Ala115Val
NM_000146.4:c.-167C>T MANE Select NP_000137.2:n.-167C>T