Canonical Allele Identifier: CA145423
Gene: FAT4 HGNC NCBI

Linked Data

ClinVar Variation Id: 89006
dbSNP Id: rs398122955

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125434349G>A , CM000666.2:g.125434349G>A GRCh38
NC_000004.11:g.126355504G>A , CM000666.1:g.126355504G>A GRCh37
NC_000004.10:g.126574954G>A NCBI36
NG_033865.1:g.122938G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394329.9:c.7123G>A MANE Select ENSP00000377862.4:p.Glu2375Lys
ENST00000674496.2:c.1894G>A ENSP00000501473.2:p.Glu632Lys
ENST00000335110.5:c.2017G>A ENSP00000335169.5:p.Glu673Lys
ENST00000394329.7:c.7123G>A ENSP00000377862.3:p.Glu2375Lys
NM_001291285.1:c.7123G>A NP_001278214.1:p.Glu2375Lys
NM_001291303.1:c.7123G>A NP_001278232.1:p.Glu2375Lys
NM_024582.4:c.7123G>A NP_078858.4:p.Glu2375Lys
XM_011532236.1:c.7123G>A XP_011530538.1:p.Glu2375Lys
XM_011532237.1:c.1894G>A XP_011530539.1:p.Glu632Lys
XM_011532236.2:c.7123G>A XP_011530538.1:p.Glu2375Lys
XM_011532237.2:c.1894G>A XP_011530539.1:p.Glu632Lys
NM_001291285.2:c.7123G>A NP_001278214.1:p.Glu2375Lys
NM_001291303.3:c.7123G>A MANE Select NP_001278232.1:p.Glu2375Lys
NM_024582.5:c.7123G>A NP_078858.4:p.Glu2375Lys
NM_001291285.3:c.7123G>A NP_001278214.1:p.Glu2375Lys
NM_024582.6:c.7123G>A NP_078858.4:p.Glu2375Lys