Canonical Allele Identifier: CA3073333
Community Standard Title: NM_001291303.3(FAT4):c.8252G>T (p.Gly2751Val)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125449262G>T , CM000666.2:g.125449262G>T GRCh38
NC_000004.11:g.126370417G>T , CM000666.1:g.126370417G>T GRCh37
NC_000004.10:g.126589867G>T NCBI36
NG_033865.1:g.137851G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.8252G>T MANE Select NP_001278232.1:p.Gly2751Val
ENST00000394329.9:c.8252G>T MANE Select ENSP00000377862.4:p.Gly2751Val
NM_001291285.1:c.8252G>T NP_001278214.1:p.Gly2751Val
NM_001291285.2:c.8252G>T NP_001278214.1:p.Gly2751Val
NM_001291285.3:c.8252G>T NP_001278214.1:p.Gly2751Val
NM_001291303.1:c.8252G>T NP_001278232.1:p.Gly2751Val
NM_024582.4:c.8246G>T NP_078858.4:p.Gly2749Val
NM_024582.5:c.8246G>T NP_078858.4:p.Gly2749Val
NM_024582.6:c.8246G>T NP_078858.4:p.Gly2749Val
ENST00000335110.5:c.3140G>T ENSP00000335169.5:p.Gly1047Val
ENST00000394329.7:c.8246G>T ENSP00000377862.3:p.Gly2749Val
ENST00000674496.2:c.3023G>T ENSP00000501473.2:p.Gly1008Val
XM_011532236.1:c.8252G>T XP_011530538.1:p.Gly2751Val
XM_011532236.2:c.8252G>T XP_011530538.1:p.Gly2751Val
XM_011532237.1:c.3023G>T XP_011530539.1:p.Gly1008Val
XM_011532237.2:c.3023G>T XP_011530539.1:p.Gly1008Val