Canonical Allele Identifier: CA211321
Gene: FTL HGNC NCBI

Linked Data

ClinVar Variation Id: 156439
ClinVar RCV Id: RCV000144502 RCV000311515 RCV000395171
dbSNP Id: rs201241191
ExAC: 19:49469093 G / A
gnomAD v2: 19-49469093-G-A
gnomAD v3: 19-48965836-G-A
gnomAD v4: 19-48965836-G-A
MyVariant Identifiers: chr19:g.49469093G>A (hg19) chr19:g.48965836G>A (hg38)
PubMed: PMID:17182944
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965836G>A , CM000681.2:g.48965836G>A GRCh38
NC_000019.9:g.49469093G>A , CM000681.1:g.49469093G>A GRCh37
NC_000019.8:g.54160905G>A NCBI36
NG_008152.1:g.5528G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000331825.11:c.169G>A MANE Select ENSP00000366525.2:p.Glu57Lys
ENST00000331825.10:c.169G>A ENSP00000366525.2:p.Glu57Lys
ENST00000622577.2:c.169G>A ENSP00000484043.1:p.Glu57Lys
NM_000146.3:c.169G>A NP_000137.2:p.Glu57Lys
XM_024451447.1:c.679G>A XP_024307215.1:p.Glu227Lys
NM_000146.4:c.169G>A MANE Select NP_000137.2:p.Glu57Lys
Search 100 bp 5'
Search 100 bp 3'