Canonical Allele Identifier: CA3073094

Gene: FAT4

Linked Data

• ClinVar Variation Id: 424428
• ClinVar RCV Id: RCV000483029 ; RCV001333192 ; RCV003902733
• dbSNP Id: rs116568645
• ExAC: 4:126355484 C / A
• gnomAD v2: 4-126355484-C-A
• gnomAD v3: 4-125434329-C-A
• gnomAD v4: 4-125434329-C-A
• MyVariant Identifiers: chr4:g.126355484C>A (hg19) ; chr4:g.125434329C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125434329C>A , CM000666.2:g.125434329C>A	GRCh38
NC_000004.11:g.126355484C>A , CM000666.1:g.126355484C>A	GRCh37
NC_000004.10:g.126574934C>A	NCBI36
NG_033865.1:g.122918C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.7103C>A MANE Select	ENSP00000377862.4:p.Ala2368Glu
ENST00000674496.2:c.1874C>A	ENSP00000501473.2:p.Ala625Glu
ENST00000335110.5:c.1997C>A	ENSP00000335169.5:p.Ala666Glu
ENST00000394329.7:c.7103C>A	ENSP00000377862.3:p.Ala2368Glu
NM_001291285.1:c.7103C>A	NP_001278214.1:p.Ala2368Glu
NM_001291303.1:c.7103C>A	NP_001278232.1:p.Ala2368Glu
NM_024582.4:c.7103C>A	NP_078858.4:p.Ala2368Glu
XM_011532236.1:c.7103C>A	XP_011530538.1:p.Ala2368Glu
XM_011532237.1:c.1874C>A	XP_011530539.1:p.Ala625Glu
XM_011532236.2:c.7103C>A	XP_011530538.1:p.Ala2368Glu
XM_011532237.2:c.1874C>A	XP_011530539.1:p.Ala625Glu
NM_001291285.2:c.7103C>A	NP_001278214.1:p.Ala2368Glu
NM_001291303.3:c.7103C>A MANE Select	NP_001278232.1:p.Ala2368Glu
NM_024582.5:c.7103C>A	NP_078858.4:p.Ala2368Glu
NM_001291285.3:c.7103C>A	NP_001278214.1:p.Ala2368Glu
NM_024582.6:c.7103C>A	NP_078858.4:p.Ala2368Glu