Canonical Allele Identifier: CA2576844647

Gene: FTL

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48966186C>T , CM000681.2:g.48966186C>T	GRCh38
NC_000019.9:g.49469443C>T , CM000681.1:g.49469443C>T	GRCh37
NC_000019.8:g.54161255C>T	NCBI36
NG_008152.1:g.5878C>T
NG_012923.1:g.32168G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331825.11:c.250-95C>T MANE Select	ENSP00000366525.2:n.250-95C>T
ENST00000331825.10:c.250-95C>T	ENSP00000366525.2:n.250-95C>T
ENST00000622577.2:c.250-95C>T	ENSP00000484043.1:n.250-95C>T
NM_000146.3:c.250-95C>T	NP_000137.2:n.250-95C>T
XM_024451447.1:c.760-95C>T	XP_024307215.1:n.760-95C>T
NM_000146.4:c.250-95C>T MANE Select	NP_000137.2:n.250-95C>T