Canonical Allele Identifier: CA3071770
Community Standard Title: NM_001291303.3(FAT4):c.235G>T (p.Ala79Ser)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125316646G>T , CM000666.2:g.125316646G>T GRCh38
NC_000004.11:g.126237801G>T , CM000666.1:g.126237801G>T GRCh37
NC_000004.10:g.126457251G>T NCBI36
NG_033865.1:g.5235G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.235G>T MANE Select NP_001278232.1:p.Ala79Ser
ENST00000394329.9:c.235G>T MANE Select ENSP00000377862.4:p.Ala79Ser
NM_001291285.1:c.235G>T NP_001278214.1:p.Ala79Ser
NM_001291285.2:c.235G>T NP_001278214.1:p.Ala79Ser
NM_001291285.3:c.235G>T NP_001278214.1:p.Ala79Ser
NM_001291303.1:c.235G>T NP_001278232.1:p.Ala79Ser
NM_024582.4:c.235G>T NP_078858.4:p.Ala79Ser
NM_024582.5:c.235G>T NP_078858.4:p.Ala79Ser
NM_024582.6:c.235G>T NP_078858.4:p.Ala79Ser
ENST00000394329.7:c.235G>T ENSP00000377862.3:p.Ala79Ser
ENST00000674496.2:c.-55+669G>T ENSP00000501473.2:n.-55+669G>T
XM_011532236.1:c.235G>T XP_011530538.1:p.Ala79Ser
XM_011532236.2:c.235G>T XP_011530538.1:p.Ala79Ser
XM_011532237.1:c.-55+669G>T XP_011530539.1:n.-55+669G>T
XM_011532237.2:c.-55+669G>T XP_011530539.1:n.-55+669G>T