Canonical Allele Identifier: CA2340161139
Gene: FTL HGNC NCBI

Linked Data

ClinVar Variation Id: 1520210
ClinVar RCV Id: RCV002043898
dbSNP Id: rs2038437773
gnomAD v3: 19-48965315-C-G
gnomAD v4: 19-48965315-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965315C>G , CM000681.2:g.48965315C>G GRCh38
NC_000019.9:g.49468572C>G , CM000681.1:g.49468572C>G GRCh37
NC_000019.8:g.54160384C>G NCBI36
NG_008152.1:g.5007C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.-193C>G MANE Select ENSP00000366525.2:n.-193C>G
ENST00000331825.10:c.-193C>G ENSP00000366525.2:n.-193C>G
ENST00000622577.2:c.-193C>G ENSP00000484043.1:n.-193C>G
NM_000146.3:c.-193C>G NP_000137.2:n.-193C>G
XM_024451447.1:c.318C>G XP_024307215.1:p.Phe106Leu
NM_000146.4:c.-193C>G MANE Select NP_000137.2:n.-193C>G
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