Canonical Allele Identifier: CA126421
Gene: FGG HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.154609725C>T
GRCh37 chr4:g.155530877C>T
Revel Score:
ENST00000404648 0.785
ENST00000405164 0.785
ENST00000336098 (MANE Select) 0.785
ENST00000407946 0.785
ENST00000443553 0.785
ENST00000393846 0.785
gnomAD v2:
4:155530877 C / T
gnomAD v3:
4:154609725 C / T
gnomAD v4:
chr4-154609725-C-T
Joint Max Group AF 0.00459333 (NFE)
Genomes Max Group AF 0.00492838 (NFE)
Exomes Max Group AF 0.00454885 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154609725C>T , CM000666.2:g.154609725C>T GRCh38
NC_000004.11:g.155530877C>T , CM000666.1:g.155530877C>T GRCh37
NC_000004.10:g.155750327C>T NCBI36
NG_008834.1:g.8026G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336098.8:c.571G>A MANE Select ENSP00000336829.3:p.Gly191Arg
ENST00000336098.7:c.571G>A ENSP00000336829.3:p.Gly191Arg
ENST00000393846.6:c.262G>A ENSP00000377429.2:p.Gly88Arg
ENST00000404648.7:c.571G>A ENSP00000384860.3:p.Gly191Arg
ENST00000405164.5:c.595G>A ENSP00000384101.1:p.Gly199Arg
ENST00000407946.5:c.595G>A ENSP00000384552.1:p.Gly199Arg
ENST00000443553.5:c.262G>A ENSP00000407562.1:p.Gly88Arg
ENST00000465913.1:n.119G>A
ENST00000492082.5:n.1113G>A
NM_000509.4:c.571G>A NP_000500.2:p.Gly191Arg
NM_000509.5:c.571G>A NP_000500.2:p.Gly191Arg
NM_021870.2:c.571G>A NP_068656.2:p.Gly191Arg
NM_021870.3:c.571G>A MANE Select NP_068656.2:p.Gly191Arg
NM_000509.6:c.571G>A NP_000500.2:p.Gly191Arg
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