Canonical Allele Identifier: CA3074164

Gene: FAT4

Linked Data

• ClinVar Variation Id: 432221
• ClinVar RCV Id: RCV000498993 ; RCV001333189 ; RCV002524078
• dbSNP Id: rs148170326
• ExAC: 4:126402718 G / A
• gnomAD v2: 4-126402718-G-A
• gnomAD v3: 4-125481563-G-A
• gnomAD v4: 4-125481563-G-A
• COSMIC: COSM1426934 ; COSM1426935
• MyVariant Identifiers: chr4:g.126402718G>A (hg19) ; chr4:g.125481563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125481563G>A , CM000666.2:g.125481563G>A	GRCh38
NC_000004.11:g.126402718G>A , CM000666.1:g.126402718G>A	GRCh37
NC_000004.10:g.126622168G>A	NCBI36
NG_033865.1:g.170152G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.12647G>A MANE Select	ENSP00000377862.4:p.Arg4216His
ENST00000674496.2:c.7418G>A	ENSP00000501473.2:p.Arg2473His
ENST00000335110.5:c.7364G>A	ENSP00000335169.5:p.Arg2455His
ENST00000394329.7:c.12641G>A	ENSP00000377862.3:p.Arg4214His
NM_001291285.1:c.12647G>A	NP_001278214.1:p.Arg4216His
NM_001291303.1:c.12647G>A	NP_001278232.1:p.Arg4216His
NM_024582.4:c.12641G>A	NP_078858.4:p.Arg4214His
XM_011532236.1:c.12647G>A	XP_011530538.1:p.Arg4216His
XM_011532237.1:c.7418G>A	XP_011530539.1:p.Arg2473His
XM_011532236.2:c.12647G>A	XP_011530538.1:p.Arg4216His
XM_011532237.2:c.7418G>A	XP_011530539.1:p.Arg2473His
NM_001291285.2:c.12647G>A	NP_001278214.1:p.Arg4216His
NM_001291303.3:c.12647G>A MANE Select	NP_001278232.1:p.Arg4216His
NM_024582.5:c.12641G>A	NP_078858.4:p.Arg4214His
NM_001291285.3:c.12647G>A	NP_001278214.1:p.Arg4216His
NM_024582.6:c.12641G>A	NP_078858.4:p.Arg4214His