Canonical Allele Identifier: CA309376162
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs150366665
gnomAD v3: 19-48966066-C-T
gnomAD v4: 19-48966066-C-T
MyVariant Identifiers: chr19:g.49469323C>T (hg19) chr19:g.48966066C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966066C>T , CM000681.2:g.48966066C>T GRCh38
NC_000019.9:g.49469323C>T , CM000681.1:g.49469323C>T GRCh37
NC_000019.8:g.54161135C>T NCBI36
NG_008152.1:g.5758C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.249+150C>T MANE Select ENSP00000366525.2:n.249+150C>T
ENST00000331825.10:c.249+150C>T ENSP00000366525.2:n.249+150C>T
ENST00000622577.2:c.249+150C>T ENSP00000484043.1:n.249+150C>T
NM_000146.3:c.249+150C>T NP_000137.2:n.249+150C>T
XM_024451447.1:c.759+150C>T XP_024307215.1:n.759+150C>T
NM_000146.4:c.249+150C>T MANE Select NP_000137.2:n.249+150C>T
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