Canonical Allele Identifier: CA309376202
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs111299741
gnomAD v4: 19-48966088-G-A
MyVariant Identifiers: chr19:g.49469345G>A (hg19) chr19:g.48966088G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966088G>A , CM000681.2:g.48966088G>A GRCh38
NC_000019.9:g.49469345G>A , CM000681.1:g.49469345G>A GRCh37
NC_000019.8:g.54161157G>A NCBI36
NG_008152.1:g.5780G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.249+172G>A MANE Select ENSP00000366525.2:n.249+172G>A
ENST00000331825.10:c.249+172G>A ENSP00000366525.2:n.249+172G>A
ENST00000622577.2:c.249+172G>A ENSP00000484043.1:n.249+172G>A
NM_000146.3:c.249+172G>A NP_000137.2:n.249+172G>A
XM_024451447.1:c.759+172G>A XP_024307215.1:n.759+172G>A
NM_000146.4:c.249+172G>A MANE Select NP_000137.2:n.249+172G>A
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