Canonical Allele Identifier: CA309374806
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs1024017456
gnomAD v2: 19-49468516-C-G
gnomAD v3: 19-48965259-C-G
gnomAD v4: 19-48965259-C-G
MyVariant Identifiers: chr19:g.49468516C>G (hg19) chr19:g.48965259C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965259C>G , CM000681.2:g.48965259C>G GRCh38
NC_000019.9:g.49468516C>G , CM000681.1:g.49468516C>G GRCh37
NC_000019.8:g.54160328C>G NCBI36
NG_008152.1:g.4951C>G

Transcript Alleles

HGVS Amino-acid Change
XM_024451447.1:c.262C>G XP_024307215.1:p.Leu88Val
Search 100 bp 5'
Search 100 bp 3'