Canonical Allele Identifier: CA10652669

Gene: FTL

Linked Data

• ClinVar Variation Id: 329789
• ClinVar RCV Id: RCV000283858 ; RCV000378331
• dbSNP Id: rs374919004
• gnomAD v3: 19-48966866-A-T
• gnomAD v4: 19-48966866-A-T
• MyVariant Identifiers: chr19:g.49470123A>T (hg19) ; chr19:g.48966866A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48966866A>T , CM000681.2:g.48966866A>T	GRCh38
NC_000019.9:g.49470123A>T , CM000681.1:g.49470123A>T	GRCh37
NC_000019.8:g.54161935A>T	NCBI36
NG_008152.1:g.6558A>T
NG_012923.1:g.31488T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331825.11:c.*131A>T MANE Select	ENSP00000366525.2:n.*131A>T
ENST00000331825.10:c.*131A>T	ENSP00000366525.2:n.*131A>T
NM_000146.3:c.*131A>T	NP_000137.2:n.*131A>T
XM_024451447.1:c.1169A>T	XP_024307215.1:n.1169A>T
NM_000146.4:c.*131A>T MANE Select	NP_000137.2:n.*131A>T