Canonical Allele Identifier: CA309374806

Gene: FTL

Linked Data

• dbSNP Id: rs1024017456
• gnomAD v2: 19-49468516-C-G
• gnomAD v3: 19-48965259-C-G
• gnomAD v4: 19-48965259-C-G
• MyVariant Identifiers: chr19:g.49468516C>G (hg19) ; chr19:g.48965259C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48965259C>G , CM000681.2:g.48965259C>G	GRCh38
NC_000019.9:g.49468516C>G , CM000681.1:g.49468516C>G	GRCh37
NC_000019.8:g.54160328C>G	NCBI36
NG_008152.1:g.4951C>G

Transcript Alleles

HGVS	Amino-acid Change
XM_024451447.1:c.262C>G	XP_024307215.1:p.Leu88Val