Canonical Allele Identifier: CA2340161140
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs2038437773
gnomAD v4: 19-48965315-C-T
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.-193C>T MANE Select ENSP00000366525.2:n.-193C>T
ENST00000331825.10:c.-193C>T ENSP00000366525.2:n.-193C>T
ENST00000622577.2:c.-193C>T ENSP00000484043.1:n.-193C>T
NM_000146.3:c.-193C>T NP_000137.2:n.-193C>T
XM_024451447.1:c.318C>T XP_024307215.1:p.Phe106=
NM_000146.4:c.-193C>T MANE Select NP_000137.2:n.-193C>T
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