Canonical Allele Identifier: CA508078136

Gene: FTL

Linked Data

• gnomAD v4: 19-48966391-C-G
• MyVariant Identifiers: chr19:g.49469648C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48966391C>G , CM000681.2:g.48966391C>G	GRCh38
NC_000019.9:g.49469648C>G , CM000681.1:g.49469648C>G	GRCh37
NC_000019.8:g.54161460C>G	NCBI36
NG_008152.1:g.6083C>G
NG_012923.1:g.31963G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331825.11:c.360C>G MANE Select	ENSP00000366525.2:p.Ala120=
ENST00000331825.10:c.360C>G	ENSP00000366525.2:p.Ala120=
ENST00000622577.2:c.360C>G	ENSP00000484043.1:p.Ala120=
NM_000146.3:c.360C>G	NP_000137.2:p.Ala120=
XM_024451447.1:c.870C>G	XP_024307215.1:p.Ala290=
NM_000146.4:c.360C>G MANE Select	NP_000137.2:p.Ala120=