Canonical Allele Identifier: CA3074617

Gene: FAT4

Linked Data

• dbSNP Id: rs762126456
• ExAC: 4:126412703 C / T
• gnomAD v2: 4-126412703-C-T
• gnomAD v3: 4-125491548-C-T
• gnomAD v4: 4-125491548-C-T
• MyVariant Identifiers: chr4:g.126412703C>T (hg19) ; chr4:g.125491548C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125491548C>T , CM000666.2:g.125491548C>T	GRCh38
NC_000004.11:g.126412703C>T , CM000666.1:g.126412703C>T	GRCh37
NC_000004.10:g.126632153C>T	NCBI36
NG_033865.1:g.180137C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.14732C>T MANE Select	ENSP00000377862.4:p.Ala4911Val
ENST00000674496.2:c.9503C>T	ENSP00000501473.2:p.Ala3168Val
ENST00000335110.5:c.9449C>T	ENSP00000335169.5:p.Ala3150Val
ENST00000394329.7:c.14726C>T	ENSP00000377862.3:p.Ala4909Val
NM_001291285.1:c.14729C>T	NP_001278214.1:p.Ala4910Val
NM_001291303.1:c.14732C>T	NP_001278232.1:p.Ala4911Val
NM_024582.4:c.14726C>T	NP_078858.4:p.Ala4909Val
XM_011532236.1:c.14732C>T	XP_011530538.1:p.Ala4911Val
XM_011532237.1:c.9503C>T	XP_011530539.1:p.Ala3168Val
XM_011532236.2:c.14732C>T	XP_011530538.1:p.Ala4911Val
XM_011532237.2:c.9503C>T	XP_011530539.1:p.Ala3168Val
NM_001291285.2:c.14729C>T	NP_001278214.1:p.Ala4910Val
NM_001291303.3:c.14732C>T MANE Select	NP_001278232.1:p.Ala4911Val
NM_024582.5:c.14726C>T	NP_078858.4:p.Ala4909Val
NM_001291285.3:c.14729C>T	NP_001278214.1:p.Ala4910Val
NM_024582.6:c.14726C>T	NP_078858.4:p.Ala4909Val