Canonical Allele Identifier: CA441366499

Gene: FAT4

Linked Data

• ClinVar Variation Id: 1535688
• ClinVar RCV Id: RCV002077893
• dbSNP Id: rs2125939679
• gnomAD v4: 4-125317506-C-A
• MyVariant Identifiers: chr4:g.126238661C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125317506C>A , CM000666.2:g.125317506C>A	GRCh38
NC_000004.11:g.126238661C>A , CM000666.1:g.126238661C>A	GRCh37
NC_000004.10:g.126458111C>A	NCBI36
NG_033865.1:g.6095C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.1095C>A MANE Select	ENSP00000377862.4:p.Ala365=
ENST00000674496.2:c.-55+1529C>A	ENSP00000501473.2:n.-55+1529C>A
ENST00000394329.7:c.1095C>A	ENSP00000377862.3:p.Ala365=
NM_001291285.1:c.1095C>A	NP_001278214.1:p.Ala365=
NM_001291303.1:c.1095C>A	NP_001278232.1:p.Ala365=
NM_024582.4:c.1095C>A	NP_078858.4:p.Ala365=
XM_011532236.1:c.1095C>A	XP_011530538.1:p.Ala365=
XM_011532237.1:c.-55+1529C>A	XP_011530539.1:n.-55+1529C>A
XM_011532236.2:c.1095C>A	XP_011530538.1:p.Ala365=
XM_011532237.2:c.-55+1529C>A	XP_011530539.1:n.-55+1529C>A
NM_001291285.2:c.1095C>A	NP_001278214.1:p.Ala365=
NM_001291303.3:c.1095C>A MANE Select	NP_001278232.1:p.Ala365=
NM_024582.5:c.1095C>A	NP_078858.4:p.Ala365=
NM_001291285.3:c.1095C>A	NP_001278214.1:p.Ala365=
NM_024582.6:c.1095C>A	NP_078858.4:p.Ala365=