Canonical Allele Identifier: CA3071945
Community Standard Title: NM_001291303.3(FAT4):c.1222G>A (p.Glu408Lys)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125317633G>A , CM000666.2:g.125317633G>A GRCh38
NC_000004.11:g.126238788G>A , CM000666.1:g.126238788G>A GRCh37
NC_000004.10:g.126458238G>A NCBI36
NG_033865.1:g.6222G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.1222G>A MANE Select NP_001278232.1:p.Glu408Lys
ENST00000394329.9:c.1222G>A MANE Select ENSP00000377862.4:p.Glu408Lys
NM_001291285.1:c.1222G>A NP_001278214.1:p.Glu408Lys
NM_001291285.2:c.1222G>A NP_001278214.1:p.Glu408Lys
NM_001291285.3:c.1222G>A NP_001278214.1:p.Glu408Lys
NM_001291303.1:c.1222G>A NP_001278232.1:p.Glu408Lys
NM_024582.4:c.1222G>A NP_078858.4:p.Glu408Lys
NM_024582.5:c.1222G>A NP_078858.4:p.Glu408Lys
NM_024582.6:c.1222G>A NP_078858.4:p.Glu408Lys
ENST00000394329.7:c.1222G>A ENSP00000377862.3:p.Glu408Lys
ENST00000674496.2:c.-55+1656G>A ENSP00000501473.2:n.-55+1656G>A
XM_011532236.1:c.1222G>A XP_011530538.1:p.Glu408Lys
XM_011532236.2:c.1222G>A XP_011530538.1:p.Glu408Lys
XM_011532237.1:c.-55+1656G>A XP_011530539.1:n.-55+1656G>A
XM_011532237.2:c.-55+1656G>A XP_011530539.1:n.-55+1656G>A