Canonical Allele Identifier: CA3074127
Community Standard Title: NM_001291303.3(FAT4):c.12499G>A (p.Ala4167Thr)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125479760G>A , CM000666.2:g.125479760G>A GRCh38
NC_000004.11:g.126400915G>A , CM000666.1:g.126400915G>A GRCh37
NC_000004.10:g.126620365G>A NCBI36
NG_033865.1:g.168349G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.12499G>A MANE Select NP_001278232.1:p.Ala4167Thr
ENST00000394329.9:c.12499G>A MANE Select ENSP00000377862.4:p.Ala4167Thr
NM_001291285.1:c.12499G>A NP_001278214.1:p.Ala4167Thr
NM_001291285.2:c.12499G>A NP_001278214.1:p.Ala4167Thr
NM_001291285.3:c.12499G>A NP_001278214.1:p.Ala4167Thr
NM_001291303.1:c.12499G>A NP_001278232.1:p.Ala4167Thr
NM_024582.4:c.12493G>A NP_078858.4:p.Ala4165Thr
NM_024582.5:c.12493G>A NP_078858.4:p.Ala4165Thr
NM_024582.6:c.12493G>A NP_078858.4:p.Ala4165Thr
ENST00000335110.5:c.7322-1761G>A ENSP00000335169.5:n.7322-1761G>A
ENST00000394329.7:c.12493G>A ENSP00000377862.3:p.Ala4165Thr
ENST00000674496.2:c.7270G>A ENSP00000501473.2:p.Ala2424Thr
XM_011532236.1:c.12499G>A XP_011530538.1:p.Ala4167Thr
XM_011532236.2:c.12499G>A XP_011530538.1:p.Ala4167Thr
XM_011532237.1:c.7270G>A XP_011530539.1:p.Ala2424Thr
XM_011532237.2:c.7270G>A XP_011530539.1:p.Ala2424Thr