Canonical Allele Identifier: CA3072542
Community Standard Title: NM_001291303.3(FAT4):c.4941C>T (p.Asn1647=)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125321352C>T , CM000666.2:g.125321352C>T GRCh38
NC_000004.11:g.126242507C>T , CM000666.1:g.126242507C>T GRCh37
NC_000004.10:g.126461957C>T NCBI36
NG_033865.1:g.9941C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.4941C>T MANE Select NP_001278232.1:p.Asn1647=
ENST00000394329.9:c.4941C>T MANE Select ENSP00000377862.4:p.Asn1647=
NM_001291285.1:c.4941C>T NP_001278214.1:p.Asn1647=
NM_001291285.2:c.4941C>T NP_001278214.1:p.Asn1647=
NM_001291285.3:c.4941C>T NP_001278214.1:p.Asn1647=
NM_001291303.1:c.4941C>T NP_001278232.1:p.Asn1647=
NM_024582.4:c.4941C>T NP_078858.4:p.Asn1647=
NM_024582.5:c.4941C>T NP_078858.4:p.Asn1647=
NM_024582.6:c.4941C>T NP_078858.4:p.Asn1647=
ENST00000394329.7:c.4941C>T ENSP00000377862.3:p.Asn1647=
ENST00000674496.2:c.-55+5375C>T ENSP00000501473.2:n.-55+5375C>T
ENST00000678072.1:n.2547C>T
XM_011532236.1:c.4941C>T XP_011530538.1:p.Asn1647=
XM_011532236.2:c.4941C>T XP_011530538.1:p.Asn1647=
XM_011532237.1:c.-55+5375C>T XP_011530539.1:n.-55+5375C>T
XM_011532237.2:c.-55+5375C>T XP_011530539.1:n.-55+5375C>T