Canonical Allele Identifier: CA3072235
Community Standard Title: NM_001291303.3(FAT4):c.2957T>A (p.Val986Asp)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125319368T>A , CM000666.2:g.125319368T>A GRCh38
NC_000004.11:g.126240523T>A , CM000666.1:g.126240523T>A GRCh37
NC_000004.10:g.126459973T>A NCBI36
NG_033865.1:g.7957T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.2957T>A MANE Select NP_001278232.1:p.Val986Asp
ENST00000394329.9:c.2957T>A MANE Select ENSP00000377862.4:p.Val986Asp
NM_001291285.1:c.2957T>A NP_001278214.1:p.Val986Asp
NM_001291285.2:c.2957T>A NP_001278214.1:p.Val986Asp
NM_001291285.3:c.2957T>A NP_001278214.1:p.Val986Asp
NM_001291303.1:c.2957T>A NP_001278232.1:p.Val986Asp
NM_024582.4:c.2957T>A NP_078858.4:p.Val986Asp
NM_024582.5:c.2957T>A NP_078858.4:p.Val986Asp
NM_024582.6:c.2957T>A NP_078858.4:p.Val986Asp
ENST00000394329.7:c.2957T>A ENSP00000377862.3:p.Val986Asp
ENST00000674496.2:c.-55+3391T>A ENSP00000501473.2:n.-55+3391T>A
ENST00000678072.1:n.563T>A
XM_011532236.1:c.2957T>A XP_011530538.1:p.Val986Asp
XM_011532236.2:c.2957T>A XP_011530538.1:p.Val986Asp
XM_011532237.1:c.-55+3391T>A XP_011530539.1:n.-55+3391T>A
XM_011532237.2:c.-55+3391T>A XP_011530539.1:n.-55+3391T>A