Canonical Allele Identifier: CA3074516
Community Standard Title: NM_001291303.3(FAT4):c.14169G>T (p.Leu4723Phe)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125490985G>T , CM000666.2:g.125490985G>T GRCh38
NC_000004.11:g.126412140G>T , CM000666.1:g.126412140G>T GRCh37
NC_000004.10:g.126631590G>T NCBI36
NG_033865.1:g.179574G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.14169G>T MANE Select NP_001278232.1:p.Leu4723Phe
ENST00000394329.9:c.14169G>T MANE Select ENSP00000377862.4:p.Leu4723Phe
NM_001291285.1:c.14166G>T NP_001278214.1:p.Leu4722Phe
NM_001291285.2:c.14166G>T NP_001278214.1:p.Leu4722Phe
NM_001291285.3:c.14166G>T NP_001278214.1:p.Leu4722Phe
NM_001291303.1:c.14169G>T NP_001278232.1:p.Leu4723Phe
NM_024582.4:c.14163G>T NP_078858.4:p.Leu4721Phe
NM_024582.5:c.14163G>T NP_078858.4:p.Leu4721Phe
NM_024582.6:c.14163G>T NP_078858.4:p.Leu4721Phe
ENST00000335110.5:c.8886G>T ENSP00000335169.5:p.Leu2962Phe
ENST00000394329.7:c.14163G>T ENSP00000377862.3:p.Leu4721Phe
ENST00000674496.2:c.8940G>T ENSP00000501473.2:p.Leu2980Phe
XM_011532236.1:c.14169G>T XP_011530538.1:p.Leu4723Phe
XM_011532236.2:c.14169G>T XP_011530538.1:p.Leu4723Phe
XM_011532237.1:c.8940G>T XP_011530539.1:p.Leu2980Phe
XM_011532237.2:c.8940G>T XP_011530539.1:p.Leu2980Phe