Canonical Allele Identifier: CA883052037
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs1473256828
gnomAD v3: 19-48965294-T-G
gnomAD v4: 19-48965294-T-G
MyVariant Identifiers: chr19:g.49468551T>G (hg19) chr19:g.48965294T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965294T>G , CM000681.2:g.48965294T>G GRCh38
NC_000019.9:g.49468551T>G , CM000681.1:g.49468551T>G GRCh37
NC_000019.8:g.54160363T>G NCBI36
NG_008152.1:g.4986T>G

Transcript Alleles

HGVS Amino-acid Change
XM_024451447.1:c.297T>G XP_024307215.1:p.Pro99=
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