Canonical Allele Identifier: CA883052055
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs1327094442
gnomAD v3: 19-48965306-C-T
gnomAD v4: 19-48965306-C-T
MyVariant Identifiers: chr19:g.49468563C>T (hg19) chr19:g.48965306C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965306C>T , CM000681.2:g.48965306C>T GRCh38
NC_000019.9:g.49468563C>T , CM000681.1:g.49468563C>T GRCh37
NC_000019.8:g.54160375C>T NCBI36
NG_008152.1:g.4998C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.10:c.-202C>T ENSP00000366525.2:n.-202C>T
XM_024451447.1:c.309C>T XP_024307215.1:p.Pro103=
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