Canonical Allele Identifier: CA358135211

Gene: FAT4

Linked Data

• dbSNP Id: rs1725376082
• gnomAD v4: 4-125434325-A-G
• COSMIC: COSM5945871
• MyVariant Identifiers: chr4:g.126355480A>G (hg19) ; chr4:g.125434325A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125434325A>G , CM000666.2:g.125434325A>G	GRCh38
NC_000004.11:g.126355480A>G , CM000666.1:g.126355480A>G	GRCh37
NC_000004.10:g.126574930A>G	NCBI36
NG_033865.1:g.122914A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.7099A>G MANE Select	ENSP00000377862.4:p.Lys2367Glu
ENST00000674496.2:c.1870A>G	ENSP00000501473.2:p.Lys624Glu
ENST00000335110.5:c.1993A>G	ENSP00000335169.5:p.Lys665Glu
ENST00000394329.7:c.7099A>G	ENSP00000377862.3:p.Lys2367Glu
NM_001291285.1:c.7099A>G	NP_001278214.1:p.Lys2367Glu
NM_001291303.1:c.7099A>G	NP_001278232.1:p.Lys2367Glu
NM_024582.4:c.7099A>G	NP_078858.4:p.Lys2367Glu
XM_011532236.1:c.7099A>G	XP_011530538.1:p.Lys2367Glu
XM_011532237.1:c.1870A>G	XP_011530539.1:p.Lys624Glu
XM_011532236.2:c.7099A>G	XP_011530538.1:p.Lys2367Glu
XM_011532237.2:c.1870A>G	XP_011530539.1:p.Lys624Glu
NM_001291285.2:c.7099A>G	NP_001278214.1:p.Lys2367Glu
NM_001291303.3:c.7099A>G MANE Select	NP_001278232.1:p.Lys2367Glu
NM_024582.5:c.7099A>G	NP_078858.4:p.Lys2367Glu
NM_001291285.3:c.7099A>G	NP_001278214.1:p.Lys2367Glu
NM_024582.6:c.7099A>G	NP_078858.4:p.Lys2367Glu