Canonical Allele Identifier: CA3071895

Gene: FAT4

Linked Data

• ClinVar Variation Id: 1486941
• ClinVar RCV Id: RCV002006091
• dbSNP Id: rs775610806
• ExAC: 4:126238515 C / T
• gnomAD v2: 4-126238515-C-T
• gnomAD v3: 4-125317360-C-T
• gnomAD v4: 4-125317360-C-T
• COSMIC: COSM3696350 ; COSM3696351
• MyVariant Identifiers: chr4:g.126238515C>T (hg19) ; chr4:g.125317360C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125317360C>T , CM000666.2:g.125317360C>T	GRCh38
NC_000004.11:g.126238515C>T , CM000666.1:g.126238515C>T	GRCh37
NC_000004.10:g.126457965C>T	NCBI36
NG_033865.1:g.5949C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.949C>T MANE Select	ENSP00000377862.4:p.Arg317Cys
ENST00000674496.2:c.-55+1383C>T	ENSP00000501473.2:n.-55+1383C>T
ENST00000394329.7:c.949C>T	ENSP00000377862.3:p.Arg317Cys
NM_001291285.1:c.949C>T	NP_001278214.1:p.Arg317Cys
NM_001291303.1:c.949C>T	NP_001278232.1:p.Arg317Cys
NM_024582.4:c.949C>T	NP_078858.4:p.Arg317Cys
XM_011532236.1:c.949C>T	XP_011530538.1:p.Arg317Cys
XM_011532237.1:c.-55+1383C>T	XP_011530539.1:n.-55+1383C>T
XM_011532236.2:c.949C>T	XP_011530538.1:p.Arg317Cys
XM_011532237.2:c.-55+1383C>T	XP_011530539.1:n.-55+1383C>T
NM_001291285.2:c.949C>T	NP_001278214.1:p.Arg317Cys
NM_001291303.3:c.949C>T MANE Select	NP_001278232.1:p.Arg317Cys
NM_024582.5:c.949C>T	NP_078858.4:p.Arg317Cys
NM_001291285.3:c.949C>T	NP_001278214.1:p.Arg317Cys
NM_024582.6:c.949C>T	NP_078858.4:p.Arg317Cys