Canonical Allele Identifier: CA309374813
Gene: FTL HGNC NCBI

Linked Data

ClinVar Variation Id: 1420487
ClinVar RCV Id: RCV001914317
dbSNP Id: rs960442161
gnomAD v2: 19-49468534-C-T
gnomAD v3: 19-48965277-C-T
gnomAD v4: 19-48965277-C-T
MyVariant Identifiers: chr19:g.49468534C>T (hg19) chr19:g.48965277C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965277C>T , CM000681.2:g.48965277C>T GRCh38
NC_000019.9:g.49468534C>T , CM000681.1:g.49468534C>T GRCh37
NC_000019.8:g.54160346C>T NCBI36
NG_008152.1:g.4969C>T

Transcript Alleles

HGVS Amino-acid Change
XM_024451447.1:c.280C>T XP_024307215.1:p.His94Tyr
Search 100 bp 5'
Search 100 bp 3'