Canonical Allele Identifier: CA358121640
Community Standard Title: NM_001291303.3(FAT4):c.3040C>T (p.Arg1014Ter)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125319451C>T , CM000666.2:g.125319451C>T GRCh38
NC_000004.11:g.126240606C>T , CM000666.1:g.126240606C>T GRCh37
NC_000004.10:g.126460056C>T NCBI36
NG_033865.1:g.8040C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.3040C>T MANE Select NP_001278232.1:p.Arg1014Ter
ENST00000394329.9:c.3040C>T MANE Select ENSP00000377862.4:p.Arg1014Ter
NM_001291285.1:c.3040C>T NP_001278214.1:p.Arg1014Ter
NM_001291285.2:c.3040C>T NP_001278214.1:p.Arg1014Ter
NM_001291285.3:c.3040C>T NP_001278214.1:p.Arg1014Ter
NM_001291303.1:c.3040C>T NP_001278232.1:p.Arg1014Ter
NM_024582.4:c.3040C>T NP_078858.4:p.Arg1014Ter
NM_024582.5:c.3040C>T NP_078858.4:p.Arg1014Ter
NM_024582.6:c.3040C>T NP_078858.4:p.Arg1014Ter
ENST00000394329.7:c.3040C>T ENSP00000377862.3:p.Arg1014Ter
ENST00000674496.2:c.-55+3474C>T ENSP00000501473.2:n.-55+3474C>T
ENST00000678072.1:n.646C>T
XM_011532236.1:c.3040C>T XP_011530538.1:p.Arg1014Ter
XM_011532236.2:c.3040C>T XP_011530538.1:p.Arg1014Ter
XM_011532237.1:c.-55+3474C>T XP_011530539.1:n.-55+3474C>T
XM_011532237.2:c.-55+3474C>T XP_011530539.1:n.-55+3474C>T