Canonical Allele Identifier: CA309374884
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs928481024
gnomAD v2: 19-49468580-C-T
gnomAD v3: 19-48965323-C-T
gnomAD v4: 19-48965323-C-T
MyVariant Identifiers: chr19:g.49468580C>T (hg19) chr19:g.48965323C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965323C>T , CM000681.2:g.48965323C>T GRCh38
NC_000019.9:g.49468580C>T , CM000681.1:g.49468580C>T GRCh37
NC_000019.8:g.54160392C>T NCBI36
NG_008152.1:g.5015C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.-185C>T MANE Select ENSP00000366525.2:n.-185C>T
ENST00000331825.10:c.-185C>T ENSP00000366525.2:n.-185C>T
ENST00000622577.2:c.-185C>T ENSP00000484043.1:n.-185C>T
NM_000146.3:c.-185C>T NP_000137.2:n.-185C>T
XM_024451447.1:c.326C>T XP_024307215.1:p.Pro109Leu
NM_000146.4:c.-185C>T MANE Select NP_000137.2:n.-185C>T
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