Canonical Allele Identifier: CA3074010

Gene: FAT4

Linked Data

• ClinVar Variation Id: 1674701
• ClinVar RCV Id: RCV002204435
• dbSNP Id: rs774481338
• ExAC: 4:126389860 C / T
• gnomAD v2: 4-126389860-C-T
• gnomAD v3: 4-125468705-C-T
• gnomAD v4: 4-125468705-C-T
• COSMIC: COSM4880309 ; COSM4880310
• MyVariant Identifiers: chr4:g.126389860C>T (hg19) ; chr4:g.125468705C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125468705C>T , CM000666.2:g.125468705C>T	GRCh38
NC_000004.11:g.126389860C>T , CM000666.1:g.126389860C>T	GRCh37
NC_000004.10:g.126609310C>T	NCBI36
NG_033865.1:g.157294C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.12099C>T MANE Select	ENSP00000377862.4:p.Ala4033=
ENST00000674496.2:c.6870C>T	ENSP00000501473.2:p.Ala2290=
ENST00000335110.5:c.6882C>T	ENSP00000335169.5:p.Ala2294=
ENST00000394329.7:c.12093C>T	ENSP00000377862.3:p.Ala4031=
NM_001291285.1:c.12099C>T	NP_001278214.1:p.Ala4033=
NM_001291303.1:c.12099C>T	NP_001278232.1:p.Ala4033=
NM_024582.4:c.12093C>T	NP_078858.4:p.Ala4031=
XM_011532236.1:c.12099C>T	XP_011530538.1:p.Ala4033=
XM_011532237.1:c.6870C>T	XP_011530539.1:p.Ala2290=
XM_011532236.2:c.12099C>T	XP_011530538.1:p.Ala4033=
XM_011532237.2:c.6870C>T	XP_011530539.1:p.Ala2290=
NM_001291285.2:c.12099C>T	NP_001278214.1:p.Ala4033=
NM_001291303.3:c.12099C>T MANE Select	NP_001278232.1:p.Ala4033=
NM_024582.5:c.12093C>T	NP_078858.4:p.Ala4031=
NM_001291285.3:c.12099C>T	NP_001278214.1:p.Ala4033=
NM_024582.6:c.12093C>T	NP_078858.4:p.Ala4031=