Canonical Allele Identifier: CA3074618

Gene: FAT4

Linked Data

• ClinVar Variation Id: 1528837
• ClinVar RCV Id: RCV002079806 ; RCV003968697
• dbSNP Id: rs765666547
• ExAC: 4:126412709 G / A
• gnomAD v2: 4-126412709-G-A
• gnomAD v3: 4-125491554-G-A
• gnomAD v4: 4-125491554-G-A
• MyVariant Identifiers: chr4:g.126412709G>A (hg19) ; chr4:g.125491554G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125491554G>A , CM000666.2:g.125491554G>A	GRCh38
NC_000004.11:g.126412709G>A , CM000666.1:g.126412709G>A	GRCh37
NC_000004.10:g.126632159G>A	NCBI36
NG_033865.1:g.180143G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.14738G>A MANE Select	ENSP00000377862.4:p.Gly4913Asp
ENST00000674496.2:c.9509G>A	ENSP00000501473.2:p.Gly3170Asp
ENST00000335110.5:c.9455G>A	ENSP00000335169.5:p.Gly3152Asp
ENST00000394329.7:c.14732G>A	ENSP00000377862.3:p.Gly4911Asp
NM_001291285.1:c.14735G>A	NP_001278214.1:p.Gly4912Asp
NM_001291303.1:c.14738G>A	NP_001278232.1:p.Gly4913Asp
NM_024582.4:c.14732G>A	NP_078858.4:p.Gly4911Asp
XM_011532236.1:c.14738G>A	XP_011530538.1:p.Gly4913Asp
XM_011532237.1:c.9509G>A	XP_011530539.1:p.Gly3170Asp
XM_011532236.2:c.14738G>A	XP_011530538.1:p.Gly4913Asp
XM_011532237.2:c.9509G>A	XP_011530539.1:p.Gly3170Asp
NM_001291285.2:c.14735G>A	NP_001278214.1:p.Gly4912Asp
NM_001291303.3:c.14738G>A MANE Select	NP_001278232.1:p.Gly4913Asp
NM_024582.5:c.14732G>A	NP_078858.4:p.Gly4911Asp
NM_001291285.3:c.14735G>A	NP_001278214.1:p.Gly4912Asp
NM_024582.6:c.14732G>A	NP_078858.4:p.Gly4911Asp