Canonical Allele Identifier: CA3074367
Community Standard Title: NM_001291303.3(FAT4):c.13417G>A (p.Val4473Ile)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125490233G>A , CM000666.2:g.125490233G>A GRCh38
NC_000004.11:g.126411388G>A , CM000666.1:g.126411388G>A GRCh37
NC_000004.10:g.126630838G>A NCBI36
NG_033865.1:g.178822G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.13417G>A MANE Select NP_001278232.1:p.Val4473Ile
ENST00000394329.9:c.13417G>A MANE Select ENSP00000377862.4:p.Val4473Ile
NM_001291285.1:c.13414G>A NP_001278214.1:p.Val4472Ile
NM_001291285.2:c.13414G>A NP_001278214.1:p.Val4472Ile
NM_001291285.3:c.13414G>A NP_001278214.1:p.Val4472Ile
NM_001291303.1:c.13417G>A NP_001278232.1:p.Val4473Ile
NM_024582.4:c.13411G>A NP_078858.4:p.Val4471Ile
NM_024582.5:c.13411G>A NP_078858.4:p.Val4471Ile
NM_024582.6:c.13411G>A NP_078858.4:p.Val4471Ile
ENST00000335110.5:c.8134G>A ENSP00000335169.5:p.Val2712Ile
ENST00000394329.7:c.13411G>A ENSP00000377862.3:p.Val4471Ile
ENST00000674496.2:c.8188G>A ENSP00000501473.2:p.Val2730Ile
XM_011532236.1:c.13417G>A XP_011530538.1:p.Val4473Ile
XM_011532236.2:c.13417G>A XP_011530538.1:p.Val4473Ile
XM_011532237.1:c.8188G>A XP_011530539.1:p.Val2730Ile
XM_011532237.2:c.8188G>A XP_011530539.1:p.Val2730Ile