Canonical Allele Identifier: CA9562435
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs779157654
ExAC: 19:49468994 G / A
gnomAD v2: 19-49468994-G-A
gnomAD v4: 19-48965737-G-A
MyVariant Identifiers: chr19:g.49468994G>A (hg19) chr19:g.48965737G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965737G>A , CM000681.2:g.48965737G>A GRCh38
NC_000019.9:g.49468994G>A , CM000681.1:g.49468994G>A GRCh37
NC_000019.8:g.54160806G>A NCBI36
NG_008152.1:g.5429G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000331825.11:c.103-33G>A MANE Select ENSP00000366525.2:n.103-33G>A
ENST00000331825.10:c.103-33G>A ENSP00000366525.2:n.103-33G>A
ENST00000622577.2:c.103-33G>A ENSP00000484043.1:n.103-33G>A
NM_000146.3:c.103-33G>A NP_000137.2:n.103-33G>A
XM_024451447.1:c.613-33G>A XP_024307215.1:n.613-33G>A
NM_000146.4:c.103-33G>A MANE Select NP_000137.2:n.103-33G>A
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