Canonical Allele Identifier: CA309376535

Gene: FTL

Linked Data

• dbSNP Id: rs11553209
• gnomAD v4: 19-48966362-C-T
• MyVariant Identifiers: chr19:g.49469619C>T (hg19) ; chr19:g.48966362C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48966362C>T , CM000681.2:g.48966362C>T	GRCh38
NC_000019.9:g.49469619C>T , CM000681.1:g.49469619C>T	GRCh37
NC_000019.8:g.54161431C>T	NCBI36
NG_008152.1:g.6054C>T
NG_012923.1:g.31992G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331825.11:c.331C>T MANE Select	ENSP00000366525.2:p.Leu111Phe
ENST00000331825.10:c.331C>T	ENSP00000366525.2:p.Leu111Phe
ENST00000622577.2:c.331C>T	ENSP00000484043.1:p.Leu111Phe
NM_000146.3:c.331C>T	NP_000137.2:p.Leu111Phe
XM_024451447.1:c.841C>T	XP_024307215.1:p.Leu281Phe
NM_000146.4:c.331C>T MANE Select	NP_000137.2:p.Leu111Phe