Canonical Allele Identifier: CA309374820

Gene: FTL

Linked Data

• dbSNP Id: rs919024155
• gnomAD v3: 19-48965295-A-C
• gnomAD v4: 19-48965295-A-C
• MyVariant Identifiers: chr19:g.49468552A>C (hg19) ; chr19:g.48965295A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48965295A>C , CM000681.2:g.48965295A>C	GRCh38
NC_000019.9:g.49468552A>C , CM000681.1:g.49468552A>C	GRCh37
NC_000019.8:g.54160364A>C	NCBI36
NG_008152.1:g.4987A>C

Transcript Alleles

HGVS	Amino-acid Change
XM_024451447.1:c.298A>C	XP_024307215.1:p.Ser100Arg