Canonical Allele Identifier: CA145419
Community Standard Title: NM_001291303.3(FAT4):c.12482G>T (p.Cys4161Phe)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125479743G>T , CM000666.2:g.125479743G>T GRCh38
NC_000004.11:g.126400898G>T , CM000666.1:g.126400898G>T GRCh37
NC_000004.10:g.126620348G>T NCBI36
NG_033865.1:g.168332G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.12482G>T MANE Select NP_001278232.1:p.Cys4161Phe
ENST00000394329.9:c.12482G>T MANE Select ENSP00000377862.4:p.Cys4161Phe
NM_001291285.1:c.12482G>T NP_001278214.1:p.Cys4161Phe
NM_001291285.2:c.12482G>T NP_001278214.1:p.Cys4161Phe
NM_001291285.3:c.12482G>T NP_001278214.1:p.Cys4161Phe
NM_001291303.1:c.12482G>T NP_001278232.1:p.Cys4161Phe
NM_024582.4:c.12476G>T NP_078858.4:p.Cys4159Phe
NM_024582.5:c.12476G>T NP_078858.4:p.Cys4159Phe
NM_024582.6:c.12476G>T NP_078858.4:p.Cys4159Phe
ENST00000335110.5:c.7322-1778G>T ENSP00000335169.5:n.7322-1778G>T
ENST00000394329.7:c.12476G>T ENSP00000377862.3:p.Cys4159Phe
ENST00000674496.2:c.7253G>T ENSP00000501473.2:p.Cys2418Phe
XM_011532236.1:c.12482G>T XP_011530538.1:p.Cys4161Phe
XM_011532236.2:c.12482G>T XP_011530538.1:p.Cys4161Phe
XM_011532237.1:c.7253G>T XP_011530539.1:p.Cys2418Phe
XM_011532237.2:c.7253G>T XP_011530539.1:p.Cys2418Phe