Canonical Allele Identifier: CA3074167

Gene: FAT4

Linked Data

• ClinVar Variation Id: 2169021
• ClinVar RCV Id: RCV003082863 ; RCV003093050
• dbSNP Id: rs150155800
• ExAC: 4:126402750 C / T
• gnomAD v2: 4-126402750-C-T
• gnomAD v3: 4-125481595-C-T
• gnomAD v4: 4-125481595-C-T
• MyVariant Identifiers: chr4:g.126402750C>T (hg19) ; chr4:g.125481595C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125481595C>T , CM000666.2:g.125481595C>T	GRCh38
NC_000004.11:g.126402750C>T , CM000666.1:g.126402750C>T	GRCh37
NC_000004.10:g.126622200C>T	NCBI36
NG_033865.1:g.170184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.12679C>T MANE Select	ENSP00000377862.4:p.Arg4227Trp
ENST00000674496.2:c.7450C>T	ENSP00000501473.2:p.Arg2484Trp
ENST00000335110.5:c.7396C>T	ENSP00000335169.5:p.Arg2466Trp
ENST00000394329.7:c.12673C>T	ENSP00000377862.3:p.Arg4225Trp
NM_001291285.1:c.12679C>T	NP_001278214.1:p.Arg4227Trp
NM_001291303.1:c.12679C>T	NP_001278232.1:p.Arg4227Trp
NM_024582.4:c.12673C>T	NP_078858.4:p.Arg4225Trp
XM_011532236.1:c.12679C>T	XP_011530538.1:p.Arg4227Trp
XM_011532237.1:c.7450C>T	XP_011530539.1:p.Arg2484Trp
XM_011532236.2:c.12679C>T	XP_011530538.1:p.Arg4227Trp
XM_011532237.2:c.7450C>T	XP_011530539.1:p.Arg2484Trp
NM_001291285.2:c.12679C>T	NP_001278214.1:p.Arg4227Trp
NM_001291303.3:c.12679C>T MANE Select	NP_001278232.1:p.Arg4227Trp
NM_024582.5:c.12673C>T	NP_078858.4:p.Arg4225Trp
NM_001291285.3:c.12679C>T	NP_001278214.1:p.Arg4227Trp
NM_024582.6:c.12673C>T	NP_078858.4:p.Arg4225Trp