Canonical Allele Identifier: CA3073041
Community Standard Title: NM_001291303.3(FAT4):c.6976A>G (p.Thr2326Ala)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125416580A>G , CM000666.2:g.125416580A>G GRCh38
NC_000004.11:g.126337735A>G , CM000666.1:g.126337735A>G GRCh37
NC_000004.10:g.126557185A>G NCBI36
NG_033865.1:g.105169A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.6976A>G MANE Select NP_001278232.1:p.Thr2326Ala
ENST00000394329.9:c.6976A>G MANE Select ENSP00000377862.4:p.Thr2326Ala
NM_001291285.1:c.6976A>G NP_001278214.1:p.Thr2326Ala
NM_001291285.2:c.6976A>G NP_001278214.1:p.Thr2326Ala
NM_001291285.3:c.6976A>G NP_001278214.1:p.Thr2326Ala
NM_001291303.1:c.6976A>G NP_001278232.1:p.Thr2326Ala
NM_024582.4:c.6976A>G NP_078858.4:p.Thr2326Ala
NM_024582.5:c.6976A>G NP_078858.4:p.Thr2326Ala
NM_024582.6:c.6976A>G NP_078858.4:p.Thr2326Ala
ENST00000335110.5:c.1870A>G ENSP00000335169.5:p.Thr624Ala
ENST00000394329.7:c.6976A>G ENSP00000377862.3:p.Thr2326Ala
ENST00000674496.2:c.1747A>G ENSP00000501473.2:p.Thr583Ala
XM_011532236.1:c.6976A>G XP_011530538.1:p.Thr2326Ala
XM_011532236.2:c.6976A>G XP_011530538.1:p.Thr2326Ala
XM_011532237.1:c.1747A>G XP_011530539.1:p.Thr583Ala
XM_011532237.2:c.1747A>G XP_011530539.1:p.Thr583Ala