Canonical Allele Identifier: CA3073936
Community Standard Title: NM_001291303.3(FAT4):c.11822T>C (p.Val3941Ala)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125463584T>C , CM000666.2:g.125463584T>C GRCh38
NC_000004.11:g.126384739T>C , CM000666.1:g.126384739T>C GRCh37
NC_000004.10:g.126604189T>C NCBI36
NG_033865.1:g.152173T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.11822T>C MANE Select NP_001278232.1:p.Val3941Ala
ENST00000394329.9:c.11822T>C MANE Select ENSP00000377862.4:p.Val3941Ala
NM_001291285.1:c.11822T>C NP_001278214.1:p.Val3941Ala
NM_001291285.2:c.11822T>C NP_001278214.1:p.Val3941Ala
NM_001291285.3:c.11822T>C NP_001278214.1:p.Val3941Ala
NM_001291303.1:c.11822T>C NP_001278232.1:p.Val3941Ala
NM_024582.4:c.11816T>C NP_078858.4:p.Val3939Ala
NM_024582.5:c.11816T>C NP_078858.4:p.Val3939Ala
NM_024582.6:c.11816T>C NP_078858.4:p.Val3939Ala
ENST00000335110.5:c.6689-4928T>C ENSP00000335169.5:n.6689-4928T>C
ENST00000394329.7:c.11816T>C ENSP00000377862.3:p.Val3939Ala
ENST00000674496.2:c.6593T>C ENSP00000501473.2:p.Val2198Ala
XM_011532236.1:c.11822T>C XP_011530538.1:p.Val3941Ala
XM_011532236.2:c.11822T>C XP_011530538.1:p.Val3941Ala
XM_011532237.1:c.6593T>C XP_011530539.1:p.Val2198Ala
XM_011532237.2:c.6593T>C XP_011530539.1:p.Val2198Ala