Canonical Allele Identifier: CA3074012

Gene: FAT4

Linked Data

• dbSNP Id: rs374432242
• ExAC: 4:126389874 G / A
• gnomAD v2: 4-126389874-G-A
• gnomAD v3: 4-125468719-G-A
• gnomAD v4: 4-125468719-G-A
• MyVariant Identifiers: chr4:g.126389874G>A (hg19) ; chr4:g.125468719G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125468719G>A , CM000666.2:g.125468719G>A	GRCh38
NC_000004.11:g.126389874G>A , CM000666.1:g.126389874G>A	GRCh37
NC_000004.10:g.126609324G>A	NCBI36
NG_033865.1:g.157308G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.12113G>A MANE Select	ENSP00000377862.4:p.Arg4038Lys
ENST00000674496.2:c.6884G>A	ENSP00000501473.2:p.Arg2295Lys
ENST00000335110.5:c.6896G>A	ENSP00000335169.5:p.Arg2299Lys
ENST00000394329.7:c.12107G>A	ENSP00000377862.3:p.Arg4036Lys
NM_001291285.1:c.12113G>A	NP_001278214.1:p.Arg4038Lys
NM_001291303.1:c.12113G>A	NP_001278232.1:p.Arg4038Lys
NM_024582.4:c.12107G>A	NP_078858.4:p.Arg4036Lys
XM_011532236.1:c.12113G>A	XP_011530538.1:p.Arg4038Lys
XM_011532237.1:c.6884G>A	XP_011530539.1:p.Arg2295Lys
XM_011532236.2:c.12113G>A	XP_011530538.1:p.Arg4038Lys
XM_011532237.2:c.6884G>A	XP_011530539.1:p.Arg2295Lys
NM_001291285.2:c.12113G>A	NP_001278214.1:p.Arg4038Lys
NM_001291303.3:c.12113G>A MANE Select	NP_001278232.1:p.Arg4038Lys
NM_024582.5:c.12107G>A	NP_078858.4:p.Arg4036Lys
NM_001291285.3:c.12113G>A	NP_001278214.1:p.Arg4038Lys
NM_024582.6:c.12107G>A	NP_078858.4:p.Arg4036Lys