Canonical Allele Identifier: CA358116871

Gene: FAT4

Linked Data

• ClinVar Variation Id: 2008965
• ClinVar RCV Id: RCV002829035
• gnomAD v4: 4-125317358-G-T
• MyVariant Identifiers: chr4:g.126238513G>T (hg19) ; chr4:g.125317358G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125317358G>T , CM000666.2:g.125317358G>T	GRCh38
NC_000004.11:g.126238513G>T , CM000666.1:g.126238513G>T	GRCh37
NC_000004.10:g.126457963G>T	NCBI36
NG_033865.1:g.5947G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.947G>T MANE Select	ENSP00000377862.4:p.Arg316Leu
ENST00000674496.2:c.-55+1381G>T	ENSP00000501473.2:n.-55+1381G>T
ENST00000394329.7:c.947G>T	ENSP00000377862.3:p.Arg316Leu
NM_001291285.1:c.947G>T	NP_001278214.1:p.Arg316Leu
NM_001291303.1:c.947G>T	NP_001278232.1:p.Arg316Leu
NM_024582.4:c.947G>T	NP_078858.4:p.Arg316Leu
XM_011532236.1:c.947G>T	XP_011530538.1:p.Arg316Leu
XM_011532237.1:c.-55+1381G>T	XP_011530539.1:n.-55+1381G>T
XM_011532236.2:c.947G>T	XP_011530538.1:p.Arg316Leu
XM_011532237.2:c.-55+1381G>T	XP_011530539.1:n.-55+1381G>T
NM_001291285.2:c.947G>T	NP_001278214.1:p.Arg316Leu
NM_001291303.3:c.947G>T MANE Select	NP_001278232.1:p.Arg316Leu
NM_024582.5:c.947G>T	NP_078858.4:p.Arg316Leu
NM_001291285.3:c.947G>T	NP_001278214.1:p.Arg316Leu
NM_024582.6:c.947G>T	NP_078858.4:p.Arg316Leu