Canonical Allele Identifier: CA883052946
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs1427988819
gnomAD v3: 19-48966062-A-G
gnomAD v4: 19-48966062-A-G
MyVariant Identifiers: chr19:g.49469319A>G (hg19) chr19:g.48966062A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966062A>G , CM000681.2:g.48966062A>G GRCh38
NC_000019.9:g.49469319A>G , CM000681.1:g.49469319A>G GRCh37
NC_000019.8:g.54161131A>G NCBI36
NG_008152.1:g.5754A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.249+146A>G MANE Select ENSP00000366525.2:n.249+146A>G
ENST00000331825.10:c.249+146A>G ENSP00000366525.2:n.249+146A>G
ENST00000622577.2:c.249+146A>G ENSP00000484043.1:n.249+146A>G
NM_000146.3:c.249+146A>G NP_000137.2:n.249+146A>G
XM_024451447.1:c.759+146A>G XP_024307215.1:n.759+146A>G
NM_000146.4:c.249+146A>G MANE Select NP_000137.2:n.249+146A>G
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