Canonical Allele Identifier: CA2586288386

Gene: FTL

Linked Data

• gnomAD v4: 19-48966418-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48966418C>T , CM000681.2:g.48966418C>T	GRCh38
NC_000019.9:g.49469675C>T , CM000681.1:g.49469675C>T	GRCh37
NC_000019.8:g.54161487C>T	NCBI36
NG_008152.1:g.6110C>T
NG_012923.1:g.31936G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331825.11:c.375+12C>T MANE Select	ENSP00000366525.2:n.375+12C>T
ENST00000331825.10:c.375+12C>T	ENSP00000366525.2:n.375+12C>T
ENST00000622577.2:c.375+12C>T	ENSP00000484043.1:n.375+12C>T
NM_000146.3:c.375+12C>T	NP_000137.2:n.375+12C>T
XM_024451447.1:c.885+12C>T	XP_024307215.1:n.885+12C>T
NM_000146.4:c.375+12C>T MANE Select	NP_000137.2:n.375+12C>T