Canonical Allele Identifier: CA3073706
Gene: FAT4 HGNC NCBI
COSMIC:
COSM4415580 (not active)
COSM4415581 (not active)
COSM6352944 (not active)
MyVariant.info:
GRCh38 chr4:g.125451587G>A
GRCh37 chr4:g.126372742G>A
Revel Score:
ENST00000394329 (MANE Select) 0.497
ENST00000335110 0.497
gnomAD v2:
4:126372742 G / A
gnomAD v3:
4:125451587 G / A
gnomAD v4:
chr4-125451587-G-A
Joint Max Group AF 0.40592589 (EAS)
Genomes Max Group AF 0.39293702 (EAS)
Exomes Max Group AF 0.40605432 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125451587G>A , CM000666.2:g.125451587G>A GRCh38
NC_000004.11:g.126372742G>A , CM000666.1:g.126372742G>A GRCh37
NC_000004.10:g.126592192G>A NCBI36
NG_033865.1:g.140176G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394329.9:c.10577G>A MANE Select ENSP00000377862.4:p.Gly3526Asp
ENST00000674496.2:c.5348G>A ENSP00000501473.2:p.Gly1783Asp
ENST00000335110.5:c.5465G>A ENSP00000335169.5:p.Gly1822Asp
ENST00000394329.7:c.10571G>A ENSP00000377862.3:p.Gly3524Asp
NM_001291285.1:c.10577G>A NP_001278214.1:p.Gly3526Asp
NM_001291303.1:c.10577G>A NP_001278232.1:p.Gly3526Asp
NM_024582.4:c.10571G>A NP_078858.4:p.Gly3524Asp
XM_011532236.1:c.10577G>A XP_011530538.1:p.Gly3526Asp
XM_011532237.1:c.5348G>A XP_011530539.1:p.Gly1783Asp
XM_011532236.2:c.10577G>A XP_011530538.1:p.Gly3526Asp
XM_011532237.2:c.5348G>A XP_011530539.1:p.Gly1783Asp
NM_001291285.2:c.10577G>A NP_001278214.1:p.Gly3526Asp
NM_001291303.3:c.10577G>A MANE Select NP_001278232.1:p.Gly3526Asp
NM_024582.5:c.10571G>A NP_078858.4:p.Gly3524Asp
NM_001291285.3:c.10577G>A NP_001278214.1:p.Gly3526Asp
NM_024582.6:c.10571G>A NP_078858.4:p.Gly3524Asp
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