Canonical Allele Identifier: CA126555

Gene: FTL

Linked Data

• ClinVar Variation Id: 16480
• ClinVar RCV Id: RCV000017944 ; RCV001036071 ; RCV002482882
• dbSNP Id: rs398124636
• gnomAD v4: 19-48965347-C-T
• MyVariant Identifiers: chr19:g.49468604C>T (hg19) ; chr19:g.48965347C>T (hg38)
• PubMed: PMID:9414313 ; PMID:12199804 ; PMID:23421845

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48965347C>T , CM000681.2:g.48965347C>T	GRCh38
NC_000019.9:g.49468604C>T , CM000681.1:g.49468604C>T	GRCh37
NC_000019.8:g.54160416C>T	NCBI36
NG_008152.1:g.5039C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331825.11:c.-161C>T MANE Select	ENSP00000366525.2:n.-161C>T
ENST00000331825.10:c.-161C>T	ENSP00000366525.2:n.-161C>T
ENST00000622577.2:c.-161C>T	ENSP00000484043.1:n.-161C>T
NM_000146.3:c.-161C>T	NP_000137.2:n.-161C>T
XM_024451447.1:c.350C>T	XP_024307215.1:p.Thr117Ile
NM_000146.4:c.-161C>T MANE Select	NP_000137.2:n.-161C>T