Canonical Allele Identifier: CA2586287943

Gene: FTL

Linked Data

• gnomAD v4: 19-48965300-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48965300C>G , CM000681.2:g.48965300C>G	GRCh38
NC_000019.9:g.49468557C>G , CM000681.1:g.49468557C>G	GRCh37
NC_000019.8:g.54160369C>G	NCBI36
NG_008152.1:g.4992C>G

Transcript Alleles

HGVS	Amino-acid Change
XM_024451447.1:c.303C>G	XP_024307215.1:p.His101Gln