Canonical Allele Identifier: CA2499225536
Gene: FTL HGNC NCBI

Linked Data

ClinVar Variation Id: 1052512
ClinVar RCV Id: RCV001360710
dbSNP Id: rs2122429764
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965342T>C , CM000681.2:g.48965342T>C GRCh38
NC_000019.9:g.49468599T>C , CM000681.1:g.49468599T>C GRCh37
NC_000019.8:g.54160411T>C NCBI36
NG_008152.1:g.5034T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.-166T>C MANE Select ENSP00000366525.2:n.-166T>C
ENST00000331825.10:c.-166T>C ENSP00000366525.2:n.-166T>C
ENST00000622577.2:c.-166T>C ENSP00000484043.1:n.-166T>C
NM_000146.3:c.-166T>C NP_000137.2:n.-166T>C
XM_024451447.1:c.345T>C XP_024307215.1:p.Ala115=
NM_000146.4:c.-166T>C MANE Select NP_000137.2:n.-166T>C
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