Canonical Allele Identifier: CA3073522
Community Standard Title: NM_001291303.3(FAT4):c.9412A>G (p.Ile3138Val)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125450422A>G , CM000666.2:g.125450422A>G GRCh38
NC_000004.11:g.126371577A>G , CM000666.1:g.126371577A>G GRCh37
NC_000004.10:g.126591027A>G NCBI36
NG_033865.1:g.139011A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.9412A>G MANE Select NP_001278232.1:p.Ile3138Val
ENST00000394329.9:c.9412A>G MANE Select ENSP00000377862.4:p.Ile3138Val
NM_001291285.1:c.9412A>G NP_001278214.1:p.Ile3138Val
NM_001291285.2:c.9412A>G NP_001278214.1:p.Ile3138Val
NM_001291285.3:c.9412A>G NP_001278214.1:p.Ile3138Val
NM_001291303.1:c.9412A>G NP_001278232.1:p.Ile3138Val
NM_024582.4:c.9406A>G NP_078858.4:p.Ile3136Val
NM_024582.5:c.9406A>G NP_078858.4:p.Ile3136Val
NM_024582.6:c.9406A>G NP_078858.4:p.Ile3136Val
ENST00000335110.5:c.4300A>G ENSP00000335169.5:p.Ile1434Val
ENST00000394329.7:c.9406A>G ENSP00000377862.3:p.Ile3136Val
ENST00000674496.2:c.4183A>G ENSP00000501473.2:p.Ile1395Val
XM_011532236.1:c.9412A>G XP_011530538.1:p.Ile3138Val
XM_011532236.2:c.9412A>G XP_011530538.1:p.Ile3138Val
XM_011532237.1:c.4183A>G XP_011530539.1:p.Ile1395Val
XM_011532237.2:c.4183A>G XP_011530539.1:p.Ile1395Val