Canonical Allele Identifier: CA309374808
Gene: FTL HGNC NCBI

Linked Data

ClinVar Variation Id: 2036953
ClinVar RCV Id: RCV002899531
dbSNP Id: rs1034875270
gnomAD v3: 19-48965263-G-C
gnomAD v4: 19-48965263-G-C
MyVariant Identifiers: chr19:g.49468520G>C (hg19) chr19:g.48965263G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965263G>C , CM000681.2:g.48965263G>C GRCh38
NC_000019.9:g.49468520G>C , CM000681.1:g.49468520G>C GRCh37
NC_000019.8:g.54160332G>C NCBI36
NG_008152.1:g.4955G>C

Transcript Alleles

HGVS Amino-acid Change
XM_024451447.1:c.266G>C XP_024307215.1:p.Arg89Pro
Search 100 bp 5'
Search 100 bp 3'