Canonical Allele Identifier: CA309374828
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs930267361
gnomAD v2: 19-49468558-G-A
gnomAD v3: 19-48965301-G-A
gnomAD v4: 19-48965301-G-A
MyVariant Identifiers: chr19:g.49468558G>A (hg19) chr19:g.48965301G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965301G>A , CM000681.2:g.48965301G>A GRCh38
NC_000019.9:g.49468558G>A , CM000681.1:g.49468558G>A GRCh37
NC_000019.8:g.54160370G>A NCBI36
NG_008152.1:g.4993G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.10:c.-207G>A ENSP00000366525.2:n.-207G>A
XM_024451447.1:c.304G>A XP_024307215.1:p.Val102Ile
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