Canonical Allele Identifier: CA3072683
Community Standard Title: NM_001291303.3(FAT4):c.5311G>A (p.Ala1771Thr)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125406883G>A , CM000666.2:g.125406883G>A GRCh38
NC_000004.11:g.126328038G>A , CM000666.1:g.126328038G>A GRCh37
NC_000004.10:g.126547488G>A NCBI36
NG_033865.1:g.95472G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.5311G>A MANE Select NP_001278232.1:p.Ala1771Thr
ENST00000394329.9:c.5311G>A MANE Select ENSP00000377862.4:p.Ala1771Thr
NM_001291285.1:c.5311G>A NP_001278214.1:p.Ala1771Thr
NM_001291285.2:c.5311G>A NP_001278214.1:p.Ala1771Thr
NM_001291285.3:c.5311G>A NP_001278214.1:p.Ala1771Thr
NM_001291303.1:c.5311G>A NP_001278232.1:p.Ala1771Thr
NM_024582.4:c.5311G>A NP_078858.4:p.Ala1771Thr
NM_024582.5:c.5311G>A NP_078858.4:p.Ala1771Thr
NM_024582.6:c.5311G>A NP_078858.4:p.Ala1771Thr
ENST00000335110.5:c.205G>A ENSP00000335169.5:p.Ala69Thr
ENST00000394329.7:c.5311G>A ENSP00000377862.3:p.Ala1771Thr
ENST00000674496.2:c.82G>A ENSP00000501473.2:p.Ala28Thr
XM_011532236.1:c.5311G>A XP_011530538.1:p.Ala1771Thr
XM_011532236.2:c.5311G>A XP_011530538.1:p.Ala1771Thr
XM_011532237.1:c.82G>A XP_011530539.1:p.Ala28Thr
XM_011532237.2:c.82G>A XP_011530539.1:p.Ala28Thr