Canonical Allele Identifier: CA104860484

Gene: FAT4

Linked Data

• dbSNP Id: rs866449068
• gnomAD v4: 4-125468761-C-A
• MyVariant Identifiers: chr4:g.126389916C>A (hg19) ; chr4:g.125468761C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125468761C>A , CM000666.2:g.125468761C>A	GRCh38
NC_000004.11:g.126389916C>A , CM000666.1:g.126389916C>A	GRCh37
NC_000004.10:g.126609366C>A	NCBI36
NG_033865.1:g.157350C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.12155C>A MANE Select	ENSP00000377862.4:p.Thr4052Asn
ENST00000674496.2:c.6926C>A	ENSP00000501473.2:p.Thr2309Asn
ENST00000335110.5:c.6938C>A	ENSP00000335169.5:p.Thr2313Asn
ENST00000394329.7:c.12149C>A	ENSP00000377862.3:p.Thr4050Asn
NM_001291285.1:c.12155C>A	NP_001278214.1:p.Thr4052Asn
NM_001291303.1:c.12155C>A	NP_001278232.1:p.Thr4052Asn
NM_024582.4:c.12149C>A	NP_078858.4:p.Thr4050Asn
XM_011532236.1:c.12155C>A	XP_011530538.1:p.Thr4052Asn
XM_011532237.1:c.6926C>A	XP_011530539.1:p.Thr2309Asn
XM_011532236.2:c.12155C>A	XP_011530538.1:p.Thr4052Asn
XM_011532237.2:c.6926C>A	XP_011530539.1:p.Thr2309Asn
NM_001291285.2:c.12155C>A	NP_001278214.1:p.Thr4052Asn
NM_001291303.3:c.12155C>A MANE Select	NP_001278232.1:p.Thr4052Asn
NM_024582.5:c.12149C>A	NP_078858.4:p.Thr4050Asn
NM_001291285.3:c.12155C>A	NP_001278214.1:p.Thr4052Asn
NM_024582.6:c.12149C>A	NP_078858.4:p.Thr4050Asn