Canonical Allele Identifier: CA3073390
Community Standard Title: NM_001291303.3(FAT4):c.8537G>A (p.Arg2846Gln)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125449547G>A , CM000666.2:g.125449547G>A GRCh38
NC_000004.11:g.126370702G>A , CM000666.1:g.126370702G>A GRCh37
NC_000004.10:g.126590152G>A NCBI36
NG_033865.1:g.138136G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.8537G>A MANE Select NP_001278232.1:p.Arg2846Gln
ENST00000394329.9:c.8537G>A MANE Select ENSP00000377862.4:p.Arg2846Gln
NM_001291285.1:c.8537G>A NP_001278214.1:p.Arg2846Gln
NM_001291285.2:c.8537G>A NP_001278214.1:p.Arg2846Gln
NM_001291285.3:c.8537G>A NP_001278214.1:p.Arg2846Gln
NM_001291303.1:c.8537G>A NP_001278232.1:p.Arg2846Gln
NM_024582.4:c.8531G>A NP_078858.4:p.Arg2844Gln
NM_024582.5:c.8531G>A NP_078858.4:p.Arg2844Gln
NM_024582.6:c.8531G>A NP_078858.4:p.Arg2844Gln
ENST00000335110.5:c.3425G>A ENSP00000335169.5:p.Arg1142Gln
ENST00000394329.7:c.8531G>A ENSP00000377862.3:p.Arg2844Gln
ENST00000674496.2:c.3308G>A ENSP00000501473.2:p.Arg1103Gln
XM_011532236.1:c.8537G>A XP_011530538.1:p.Arg2846Gln
XM_011532236.2:c.8537G>A XP_011530538.1:p.Arg2846Gln
XM_011532237.1:c.3308G>A XP_011530539.1:p.Arg1103Gln
XM_011532237.2:c.3308G>A XP_011530539.1:p.Arg1103Gln