Canonical Allele Identifier: CA358135352

Gene: FAT4

Linked Data

• ClinVar Variation Id: 2091201
• ClinVar RCV Id: RCV003013490
• gnomAD v4: 4-125434368-C-A
• MyVariant Identifiers: chr4:g.126355523C>A (hg19) ; chr4:g.125434368C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125434368C>A , CM000666.2:g.125434368C>A	GRCh38
NC_000004.11:g.126355523C>A , CM000666.1:g.126355523C>A	GRCh37
NC_000004.10:g.126574973C>A	NCBI36
NG_033865.1:g.122957C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.7142C>A MANE Select	ENSP00000377862.4:p.Thr2381Lys
ENST00000674496.2:c.1913C>A	ENSP00000501473.2:p.Thr638Lys
ENST00000335110.5:c.2036C>A	ENSP00000335169.5:p.Thr679Lys
ENST00000394329.7:c.7142C>A	ENSP00000377862.3:p.Thr2381Lys
NM_001291285.1:c.7142C>A	NP_001278214.1:p.Thr2381Lys
NM_001291303.1:c.7142C>A	NP_001278232.1:p.Thr2381Lys
NM_024582.4:c.7142C>A	NP_078858.4:p.Thr2381Lys
XM_011532236.1:c.7142C>A	XP_011530538.1:p.Thr2381Lys
XM_011532237.1:c.1913C>A	XP_011530539.1:p.Thr638Lys
XM_011532236.2:c.7142C>A	XP_011530538.1:p.Thr2381Lys
XM_011532237.2:c.1913C>A	XP_011530539.1:p.Thr638Lys
NM_001291285.2:c.7142C>A	NP_001278214.1:p.Thr2381Lys
NM_001291303.3:c.7142C>A MANE Select	NP_001278232.1:p.Thr2381Lys
NM_024582.5:c.7142C>A	NP_078858.4:p.Thr2381Lys
NM_001291285.3:c.7142C>A	NP_001278214.1:p.Thr2381Lys
NM_024582.6:c.7142C>A	NP_078858.4:p.Thr2381Lys