Canonical Allele Identifier: CA358117488
Gene: FAT4 HGNC NCBI

Linked Data

ClinVar Variation Id: 451794
ClinVar RCV Id: RCV000518910

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125317648A>G , CM000666.2:g.125317648A>G GRCh38
NC_000004.11:g.126238803A>G , CM000666.1:g.126238803A>G GRCh37
NC_000004.10:g.126458253A>G NCBI36
NG_033865.1:g.6237A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000394329.9:c.1237A>G MANE Select ENSP00000377862.4:p.Lys413Glu
ENST00000674496.2:c.-55+1671A>G ENSP00000501473.2:p.=
ENST00000394329.7:c.1237A>G ENSP00000377862.3:p.Lys413Glu
NM_001291285.1:n.1237A>G NP_001278214.1:p.Lys413Glu
NM_001291303.1:n.1237A>G NP_001278232.1:p.Lys413Glu
NM_024582.4:n.1237A>G NP_078858.4:p.Lys413Glu
XM_011532236.1:c.1237A>G XP_011530538.1:p.Lys413Glu
XM_011532237.1:c.-55+1671A>G XP_011530539.1:p.=
XM_011532236.2:c.1237A>G XP_011530538.1:p.Lys413Glu
XM_011532237.2:c.-55+1671A>G XP_011530539.1:p.=
NM_001291285.2:c.1237A>G NP_001278214.1:p.Lys413Glu
NM_001291303.3:c.1237A>G MANE Select NP_001278232.1:p.Lys413Glu
NM_024582.5:c.1237A>G NP_078858.4:p.Lys413Glu
NM_001291285.3:c.1237A>G NP_001278214.1:p.Lys413Glu
NM_024582.6:c.1237A>G NP_078858.4:p.Lys413Glu