Canonical Allele Identifier: CA996657261
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs2038436898
gnomAD v3: 19-48965269-C-T
gnomAD v4: 19-48965269-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965269C>T , CM000681.2:g.48965269C>T GRCh38
NC_000019.9:g.49468526C>T , CM000681.1:g.49468526C>T GRCh37
NC_000019.8:g.54160338C>T NCBI36
NG_008152.1:g.4961C>T

Transcript Alleles

HGVS Amino-acid Change
XM_024451447.1:c.272C>T XP_024307215.1:p.Pro91Leu
Search 100 bp 5'
Search 100 bp 3'