Canonical Allele Identifier: CA3074179
Community Standard Title: NM_001291303.3(FAT4):c.12778G>A (p.Val4260Ile)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125481694G>A , CM000666.2:g.125481694G>A GRCh38
NC_000004.11:g.126402849G>A , CM000666.1:g.126402849G>A GRCh37
NC_000004.10:g.126622299G>A NCBI36
NG_033865.1:g.170283G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.12778G>A MANE Select NP_001278232.1:p.Val4260Ile
ENST00000394329.9:c.12778G>A MANE Select ENSP00000377862.4:p.Val4260Ile
NM_001291285.1:c.12778G>A NP_001278214.1:p.Val4260Ile
NM_001291285.2:c.12778G>A NP_001278214.1:p.Val4260Ile
NM_001291285.3:c.12778G>A NP_001278214.1:p.Val4260Ile
NM_001291303.1:c.12778G>A NP_001278232.1:p.Val4260Ile
NM_024582.4:c.12772G>A NP_078858.4:p.Val4258Ile
NM_024582.5:c.12772G>A NP_078858.4:p.Val4258Ile
NM_024582.6:c.12772G>A NP_078858.4:p.Val4258Ile
ENST00000335110.5:c.7495G>A ENSP00000335169.5:p.Val2499Ile
ENST00000394329.7:c.12772G>A ENSP00000377862.3:p.Val4258Ile
ENST00000674496.2:c.7549G>A ENSP00000501473.2:p.Val2517Ile
XM_011532236.1:c.12778G>A XP_011530538.1:p.Val4260Ile
XM_011532236.2:c.12778G>A XP_011530538.1:p.Val4260Ile
XM_011532237.1:c.7549G>A XP_011530539.1:p.Val2517Ile
XM_011532237.2:c.7549G>A XP_011530539.1:p.Val2517Ile