Canonical Allele Identifier: CA3073096

Gene: FAT4

Linked Data

• ClinVar Variation Id: 1499252
• ClinVar RCV Id: RCV002010532
• dbSNP Id: rs538280790
• ExAC: 4:126355487 A / G
• gnomAD v2: 4-126355487-A-G
• gnomAD v3: 4-125434332-A-G
• gnomAD v4: 4-125434332-A-G
• MyVariant Identifiers: chr4:g.126355487A>G (hg19) ; chr4:g.125434332A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125434332A>G , CM000666.2:g.125434332A>G	GRCh38
NC_000004.11:g.126355487A>G , CM000666.1:g.126355487A>G	GRCh37
NC_000004.10:g.126574937A>G	NCBI36
NG_033865.1:g.122921A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.7106A>G MANE Select	ENSP00000377862.4:p.Tyr2369Cys
ENST00000674496.2:c.1877A>G	ENSP00000501473.2:p.Tyr626Cys
ENST00000335110.5:c.2000A>G	ENSP00000335169.5:p.Tyr667Cys
ENST00000394329.7:c.7106A>G	ENSP00000377862.3:p.Tyr2369Cys
NM_001291285.1:c.7106A>G	NP_001278214.1:p.Tyr2369Cys
NM_001291303.1:c.7106A>G	NP_001278232.1:p.Tyr2369Cys
NM_024582.4:c.7106A>G	NP_078858.4:p.Tyr2369Cys
XM_011532236.1:c.7106A>G	XP_011530538.1:p.Tyr2369Cys
XM_011532237.1:c.1877A>G	XP_011530539.1:p.Tyr626Cys
XM_011532236.2:c.7106A>G	XP_011530538.1:p.Tyr2369Cys
XM_011532237.2:c.1877A>G	XP_011530539.1:p.Tyr626Cys
NM_001291285.2:c.7106A>G	NP_001278214.1:p.Tyr2369Cys
NM_001291303.3:c.7106A>G MANE Select	NP_001278232.1:p.Tyr2369Cys
NM_024582.5:c.7106A>G	NP_078858.4:p.Tyr2369Cys
NM_001291285.3:c.7106A>G	NP_001278214.1:p.Tyr2369Cys
NM_024582.6:c.7106A>G	NP_078858.4:p.Tyr2369Cys