Canonical Allele Identifier: CA508078033
Gene: FTL HGNC NCBI

Linked Data

gnomAD v4: 19-48966331-C-A
MyVariant Identifiers: chr19:g.49469588C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966331C>A , CM000681.2:g.48966331C>A GRCh38
NC_000019.9:g.49469588C>A , CM000681.1:g.49469588C>A GRCh37
NC_000019.8:g.54161400C>A NCBI36
NG_008152.1:g.6023C>A
NG_012923.1:g.32023G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.300C>A MANE Select ENSP00000366525.2:p.Ala100=
ENST00000331825.10:c.300C>A ENSP00000366525.2:p.Ala100=
ENST00000622577.2:c.300C>A ENSP00000484043.1:p.Ala100=
NM_000146.3:c.300C>A NP_000137.2:p.Ala100=
XM_024451447.1:c.810C>A XP_024307215.1:p.Ala270=
NM_000146.4:c.300C>A MANE Select NP_000137.2:p.Ala100=
Search 100 bp 5'
Search 100 bp 3'