Canonical Allele Identifier: CA358140168
Community Standard Title: NM_001291303.3(FAT4):c.7504G>T (p.Glu2502Ter)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125448514G>T , CM000666.2:g.125448514G>T GRCh38
NC_000004.11:g.126369669G>T , CM000666.1:g.126369669G>T GRCh37
NC_000004.10:g.126589119G>T NCBI36
NG_033865.1:g.137103G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.7504G>T MANE Select NP_001278232.1:p.Glu2502Ter
ENST00000394329.9:c.7504G>T MANE Select ENSP00000377862.4:p.Glu2502Ter
NM_001291285.1:c.7504G>T NP_001278214.1:p.Glu2502Ter
NM_001291285.2:c.7504G>T NP_001278214.1:p.Glu2502Ter
NM_001291285.3:c.7504G>T NP_001278214.1:p.Glu2502Ter
NM_001291303.1:c.7504G>T NP_001278232.1:p.Glu2502Ter
NM_024582.4:c.7498G>T NP_078858.4:p.Glu2500Ter
NM_024582.5:c.7498G>T NP_078858.4:p.Glu2500Ter
NM_024582.6:c.7498G>T NP_078858.4:p.Glu2500Ter
ENST00000335110.5:c.2392G>T ENSP00000335169.5:p.Glu798Ter
ENST00000394329.7:c.7498G>T ENSP00000377862.3:p.Glu2500Ter
ENST00000509444.1:n.487G>T
ENST00000674496.2:c.2275G>T ENSP00000501473.2:p.Glu759Ter
XM_011532236.1:c.7504G>T XP_011530538.1:p.Glu2502Ter
XM_011532236.2:c.7504G>T XP_011530538.1:p.Glu2502Ter
XM_011532237.1:c.2275G>T XP_011530539.1:p.Glu759Ter
XM_011532237.2:c.2275G>T XP_011530539.1:p.Glu759Ter