Canonical Allele Identifier: CA358132555

Gene: FAT4

Linked Data

• gnomAD v4: 4-125481591-G-C
• MyVariant Identifiers: chr4:g.126402746G>C (hg19) ; chr4:g.125481591G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125481591G>C , CM000666.2:g.125481591G>C	GRCh38
NC_000004.11:g.126402746G>C , CM000666.1:g.126402746G>C	GRCh37
NC_000004.10:g.126622196G>C	NCBI36
NG_033865.1:g.170180G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.12675G>C MANE Select	ENSP00000377862.4:p.Glu4225Asp
ENST00000674496.2:c.7446G>C	ENSP00000501473.2:p.Glu2482Asp
ENST00000335110.5:c.7392G>C	ENSP00000335169.5:p.Glu2464Asp
ENST00000394329.7:c.12669G>C	ENSP00000377862.3:p.Glu4223Asp
NM_001291285.1:c.12675G>C	NP_001278214.1:p.Glu4225Asp
NM_001291303.1:c.12675G>C	NP_001278232.1:p.Glu4225Asp
NM_024582.4:c.12669G>C	NP_078858.4:p.Glu4223Asp
XM_011532236.1:c.12675G>C	XP_011530538.1:p.Glu4225Asp
XM_011532237.1:c.7446G>C	XP_011530539.1:p.Glu2482Asp
XM_011532236.2:c.12675G>C	XP_011530538.1:p.Glu4225Asp
XM_011532237.2:c.7446G>C	XP_011530539.1:p.Glu2482Asp
NM_001291285.2:c.12675G>C	NP_001278214.1:p.Glu4225Asp
NM_001291303.3:c.12675G>C MANE Select	NP_001278232.1:p.Glu4225Asp
NM_024582.5:c.12669G>C	NP_078858.4:p.Glu4223Asp
NM_001291285.3:c.12675G>C	NP_001278214.1:p.Glu4225Asp
NM_024582.6:c.12669G>C	NP_078858.4:p.Glu4223Asp