Canonical Allele Identifier: CA358135228

Gene: FAT4

Linked Data

• ClinVar Variation Id: 1492834
• ClinVar RCV Id: RCV001981270
• dbSNP Id: rs116568645
• gnomAD v4: 4-125434329-C-T
• MyVariant Identifiers: chr4:g.126355484C>T (hg19) ; chr4:g.125434329C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.7103C>T MANE Select	ENSP00000377862.4:p.Ala2368Val
ENST00000674496.2:c.1874C>T	ENSP00000501473.2:p.Ala625Val
ENST00000335110.5:c.1997C>T	ENSP00000335169.5:p.Ala666Val
ENST00000394329.7:c.7103C>T	ENSP00000377862.3:p.Ala2368Val
NM_001291285.1:c.7103C>T	NP_001278214.1:p.Ala2368Val
NM_001291303.1:c.7103C>T	NP_001278232.1:p.Ala2368Val
NM_024582.4:c.7103C>T	NP_078858.4:p.Ala2368Val
XM_011532236.1:c.7103C>T	XP_011530538.1:p.Ala2368Val
XM_011532237.1:c.1874C>T	XP_011530539.1:p.Ala625Val
XM_011532236.2:c.7103C>T	XP_011530538.1:p.Ala2368Val
XM_011532237.2:c.1874C>T	XP_011530539.1:p.Ala625Val
NM_001291285.2:c.7103C>T	NP_001278214.1:p.Ala2368Val
NM_001291303.3:c.7103C>T MANE Select	NP_001278232.1:p.Ala2368Val
NM_024582.5:c.7103C>T	NP_078858.4:p.Ala2368Val
NM_001291285.3:c.7103C>T	NP_001278214.1:p.Ala2368Val
NM_024582.6:c.7103C>T	NP_078858.4:p.Ala2368Val