Canonical Allele Identifier: CA149683
Gene: FTL HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.48966341G>T
GRCh37 chr19:g.49469598G>T
gnomAD v2:
19:49469598 G / T
gnomAD v4:
chr19-48966341-G-T
Joint Max Group AF 0.0001097 (SAS)
Exomes Max Group AF 0.00011549 (SAS)
ClinVar RCV:
RCV000082858
RCV002513857
ClinVar Variation:
96690
dbSNP:
199869995
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966341G>T , CM000681.2:g.48966341G>T GRCh38
NC_000019.9:g.49469598G>T , CM000681.1:g.49469598G>T GRCh37
NC_000019.8:g.54161410G>T NCBI36
NG_008152.1:g.6033G>T
NG_012923.1:g.32013C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.310G>T MANE Select ENSP00000366525.2:p.Glu104Ter
ENST00000331825.10:c.310G>T ENSP00000366525.2:p.Glu104Ter
ENST00000622577.2:c.310G>T ENSP00000484043.1:p.Glu104Ter
NM_000146.3:c.310G>T NP_000137.2:p.Glu104Ter
XM_024451447.1:c.820G>T XP_024307215.1:p.Glu274Ter
NM_000146.4:c.310G>T MANE Select NP_000137.2:p.Glu104Ter
Search 100 bp 5'
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