Canonical Allele Identifier: CA104860334

Gene: FAT4

Linked Data

• ClinVar Variation Id: 1309873
• ClinVar RCV Id: RCV001756941
• dbSNP Id: rs913813636
• gnomAD v4: 4-125468625-A-G
• MyVariant Identifiers: chr4:g.126389780A>G (hg19) ; chr4:g.125468625A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125468625A>G , CM000666.2:g.125468625A>G	GRCh38
NC_000004.11:g.126389780A>G , CM000666.1:g.126389780A>G	GRCh37
NC_000004.10:g.126609230A>G	NCBI36
NG_033865.1:g.157214A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.12019A>G MANE Select	ENSP00000377862.4:p.Ile4007Val
ENST00000674496.2:c.6790A>G	ENSP00000501473.2:p.Ile2264Val
ENST00000335110.5:c.6802A>G	ENSP00000335169.5:p.Ile2268Val
ENST00000394329.7:c.12013A>G	ENSP00000377862.3:p.Ile4005Val
NM_001291285.1:c.12019A>G	NP_001278214.1:p.Ile4007Val
NM_001291303.1:c.12019A>G	NP_001278232.1:p.Ile4007Val
NM_024582.4:c.12013A>G	NP_078858.4:p.Ile4005Val
XM_011532236.1:c.12019A>G	XP_011530538.1:p.Ile4007Val
XM_011532237.1:c.6790A>G	XP_011530539.1:p.Ile2264Val
XM_011532236.2:c.12019A>G	XP_011530538.1:p.Ile4007Val
XM_011532237.2:c.6790A>G	XP_011530539.1:p.Ile2264Val
NM_001291285.2:c.12019A>G	NP_001278214.1:p.Ile4007Val
NM_001291303.3:c.12019A>G MANE Select	NP_001278232.1:p.Ile4007Val
NM_024582.5:c.12013A>G	NP_078858.4:p.Ile4005Val
NM_001291285.3:c.12019A>G	NP_001278214.1:p.Ile4007Val
NM_024582.6:c.12013A>G	NP_078858.4:p.Ile4005Val