Canonical Allele Identifier: CA3072196
Community Standard Title: NM_001291303.3(FAT4):c.2689A>G (p.Ile897Val)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125319100A>G , CM000666.2:g.125319100A>G GRCh38
NC_000004.11:g.126240255A>G , CM000666.1:g.126240255A>G GRCh37
NC_000004.10:g.126459705A>G NCBI36
NG_033865.1:g.7689A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.2689A>G MANE Select NP_001278232.1:p.Ile897Val
ENST00000394329.9:c.2689A>G MANE Select ENSP00000377862.4:p.Ile897Val
NM_001291285.1:c.2689A>G NP_001278214.1:p.Ile897Val
NM_001291285.2:c.2689A>G NP_001278214.1:p.Ile897Val
NM_001291285.3:c.2689A>G NP_001278214.1:p.Ile897Val
NM_001291303.1:c.2689A>G NP_001278232.1:p.Ile897Val
NM_024582.4:c.2689A>G NP_078858.4:p.Ile897Val
NM_024582.5:c.2689A>G NP_078858.4:p.Ile897Val
NM_024582.6:c.2689A>G NP_078858.4:p.Ile897Val
ENST00000394329.7:c.2689A>G ENSP00000377862.3:p.Ile897Val
ENST00000674496.2:c.-55+3123A>G ENSP00000501473.2:n.-55+3123A>G
ENST00000678072.1:n.295A>G
XM_011532236.1:c.2689A>G XP_011530538.1:p.Ile897Val
XM_011532236.2:c.2689A>G XP_011530538.1:p.Ile897Val
XM_011532237.1:c.-55+3123A>G XP_011530539.1:n.-55+3123A>G
XM_011532237.2:c.-55+3123A>G XP_011530539.1:n.-55+3123A>G