Canonical Allele Identifier: CA996657252

Gene: FTL

Linked Data

• dbSNP Id: rs2038436716
• gnomAD v3: 19-48965253-C-T
• gnomAD v4: 19-48965253-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48965253C>T , CM000681.2:g.48965253C>T	GRCh38
NC_000019.9:g.49468510C>T , CM000681.1:g.49468510C>T	GRCh37
NC_000019.8:g.54160322C>T	NCBI36
NG_008152.1:g.4945C>T

Transcript Alleles

HGVS	Amino-acid Change
XM_024451447.1:c.256C>T	XP_024307215.1:p.Pro86Ser