Canonical Allele Identifier: CA2586287976
Gene: FTL HGNC NCBI

Linked Data

gnomAD v4: 19-48965343-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965343T>C , CM000681.2:g.48965343T>C GRCh38
NC_000019.9:g.49468600T>C , CM000681.1:g.49468600T>C GRCh37
NC_000019.8:g.54160412T>C NCBI36
NG_008152.1:g.5035T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.-165T>C MANE Select ENSP00000366525.2:n.-165T>C
ENST00000331825.10:c.-165T>C ENSP00000366525.2:n.-165T>C
ENST00000622577.2:c.-165T>C ENSP00000484043.1:n.-165T>C
NM_000146.3:c.-165T>C NP_000137.2:n.-165T>C
XM_024451447.1:c.346T>C XP_024307215.1:p.Ser116Pro
NM_000146.4:c.-165T>C MANE Select NP_000137.2:n.-165T>C
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