Canonical Allele Identifier: CA358143806
Gene: FAT4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1014841
ClinVar RCV Id: RCV001313628
dbSNP Id: rs1727651908

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125491653T>C , CM000666.2:g.125491653T>C GRCh38
NC_000004.11:g.126412808T>C , CM000666.1:g.126412808T>C GRCh37
NC_000004.10:g.126632258T>C NCBI36
NG_033865.1:g.180242T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394329.9:c.14837T>C MANE Select ENSP00000377862.4:p.Val4946Ala
ENST00000674496.2:c.9608T>C ENSP00000501473.2:p.Val3203Ala
ENST00000335110.5:c.9554T>C ENSP00000335169.5:p.Val3185Ala
ENST00000394329.7:c.14831T>C ENSP00000377862.3:p.Val4944Ala
NM_001291285.1:c.14834T>C NP_001278214.1:p.Val4945Ala
NM_001291303.1:c.14837T>C NP_001278232.1:p.Val4946Ala
NM_024582.4:c.14831T>C NP_078858.4:p.Val4944Ala
XM_011532236.1:c.14837T>C XP_011530538.1:p.Val4946Ala
XM_011532237.1:c.9608T>C XP_011530539.1:p.Val3203Ala
XM_011532236.2:c.14837T>C XP_011530538.1:p.Val4946Ala
XM_011532237.2:c.9608T>C XP_011530539.1:p.Val3203Ala
NM_001291285.2:c.14834T>C NP_001278214.1:p.Val4945Ala
NM_001291303.3:c.14837T>C MANE Select NP_001278232.1:p.Val4946Ala
NM_024582.5:c.14831T>C NP_078858.4:p.Val4944Ala
NM_001291285.3:c.14834T>C NP_001278214.1:p.Val4945Ala
NM_024582.6:c.14831T>C NP_078858.4:p.Val4944Ala