Canonical Allele Identifier: CA3073630

Gene: FAT4

Linked Data

• ClinVar Variation Id: 449771
• ClinVar RCV Id: RCV000521688
• dbSNP Id: rs145285004
• ExAC: 4:126372226 C / A
• gnomAD v2: 4-126372226-C-A
• gnomAD v4: 4-125451071-C-A
• COSMIC: COSM1206658 ; COSM1206659
• MyVariant Identifiers: chr4:g.126372226C>A (hg19) ; chr4:g.125451071C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125451071C>A , CM000666.2:g.125451071C>A	GRCh38
NC_000004.11:g.126372226C>A , CM000666.1:g.126372226C>A	GRCh37
NC_000004.10:g.126591676C>A	NCBI36
NG_033865.1:g.139660C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.10061C>A MANE Select	ENSP00000377862.4:p.Thr3354Asn
ENST00000674496.2:c.4832C>A	ENSP00000501473.2:p.Thr1611Asn
ENST00000335110.5:c.4949C>A	ENSP00000335169.5:p.Thr1650Asn
ENST00000394329.7:c.10055C>A	ENSP00000377862.3:p.Thr3352Asn
NM_001291285.1:c.10061C>A	NP_001278214.1:p.Thr3354Asn
NM_001291303.1:c.10061C>A	NP_001278232.1:p.Thr3354Asn
NM_024582.4:c.10055C>A	NP_078858.4:p.Thr3352Asn
XM_011532236.1:c.10061C>A	XP_011530538.1:p.Thr3354Asn
XM_011532237.1:c.4832C>A	XP_011530539.1:p.Thr1611Asn
XM_011532236.2:c.10061C>A	XP_011530538.1:p.Thr3354Asn
XM_011532237.2:c.4832C>A	XP_011530539.1:p.Thr1611Asn
NM_001291285.2:c.10061C>A	NP_001278214.1:p.Thr3354Asn
NM_001291303.3:c.10061C>A MANE Select	NP_001278232.1:p.Thr3354Asn
NM_024582.5:c.10055C>A	NP_078858.4:p.Thr3352Asn
NM_001291285.3:c.10061C>A	NP_001278214.1:p.Thr3354Asn
NM_024582.6:c.10055C>A	NP_078858.4:p.Thr3352Asn