Canonical Allele Identifier: CA2576844653

Gene: FTL

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48966230G>C , CM000681.2:g.48966230G>C	GRCh38
NC_000019.9:g.49469487G>C , CM000681.1:g.49469487G>C	GRCh37
NC_000019.8:g.54161299G>C	NCBI36
NG_008152.1:g.5922G>C
NG_012923.1:g.32124C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331825.11:c.250-51G>C MANE Select	ENSP00000366525.2:n.250-51G>C
ENST00000331825.10:c.250-51G>C	ENSP00000366525.2:n.250-51G>C
ENST00000622577.2:c.250-51G>C	ENSP00000484043.1:n.250-51G>C
NM_000146.3:c.250-51G>C	NP_000137.2:n.250-51G>C
XM_024451447.1:c.760-51G>C	XP_024307215.1:n.760-51G>C
NM_000146.4:c.250-51G>C MANE Select	NP_000137.2:n.250-51G>C