Canonical Allele Identifier: CA996657920
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs2038449563
gnomAD v3: 19-48966025-T-C
gnomAD v4: 19-48966025-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966025T>C , CM000681.2:g.48966025T>C GRCh38
NC_000019.9:g.49469282T>C , CM000681.1:g.49469282T>C GRCh37
NC_000019.8:g.54161094T>C NCBI36
NG_008152.1:g.5717T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.249+109T>C MANE Select ENSP00000366525.2:n.249+109T>C
ENST00000331825.10:c.249+109T>C ENSP00000366525.2:n.249+109T>C
ENST00000622577.2:c.249+109T>C ENSP00000484043.1:n.249+109T>C
NM_000146.3:c.249+109T>C NP_000137.2:n.249+109T>C
XM_024451447.1:c.759+109T>C XP_024307215.1:n.759+109T>C
NM_000146.4:c.249+109T>C MANE Select NP_000137.2:n.249+109T>C
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