Canonical Allele Identifier: CA358116881

Gene: FAT4

Linked Data

• ClinVar Variation Id: 2006764
• ClinVar RCV Id: RCV002811927
• MyVariant Identifiers: chr4:g.126238519A>G (hg19) ; chr4:g.125317364A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125317364A>G , CM000666.2:g.125317364A>G	GRCh38
NC_000004.11:g.126238519A>G , CM000666.1:g.126238519A>G	GRCh37
NC_000004.10:g.126457969A>G	NCBI36
NG_033865.1:g.5953A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.953A>G MANE Select	ENSP00000377862.4:p.Gln318Arg
ENST00000674496.2:c.-55+1387A>G	ENSP00000501473.2:n.-55+1387A>G
ENST00000394329.7:c.953A>G	ENSP00000377862.3:p.Gln318Arg
NM_001291285.1:c.953A>G	NP_001278214.1:p.Gln318Arg
NM_001291303.1:c.953A>G	NP_001278232.1:p.Gln318Arg
NM_024582.4:c.953A>G	NP_078858.4:p.Gln318Arg
XM_011532236.1:c.953A>G	XP_011530538.1:p.Gln318Arg
XM_011532237.1:c.-55+1387A>G	XP_011530539.1:n.-55+1387A>G
XM_011532236.2:c.953A>G	XP_011530538.1:p.Gln318Arg
XM_011532237.2:c.-55+1387A>G	XP_011530539.1:n.-55+1387A>G
NM_001291285.2:c.953A>G	NP_001278214.1:p.Gln318Arg
NM_001291303.3:c.953A>G MANE Select	NP_001278232.1:p.Gln318Arg
NM_024582.5:c.953A>G	NP_078858.4:p.Gln318Arg
NM_001291285.3:c.953A>G	NP_001278214.1:p.Gln318Arg
NM_024582.6:c.953A>G	NP_078858.4:p.Gln318Arg